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Wyszukujesz frazę ""Chromosomes, Human, Pair 7"" wg kryterium: Temat


Tytuł:
Convergent somatic evolution commences in utero in a germline ribosomopathy.
Autorzy:
Machado HE; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Øbro NF; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Williams N; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Tan S; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.; Cambridge Institute for Medical Research, Keith Peters Building, Cambridge, UK.
Boukerrou AZ; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.; Cambridge Institute for Medical Research, Keith Peters Building, Cambridge, UK.
Davies M; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.
Belmonte M; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.
Mitchell E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.
Baxter EJ; Department of Haematology, University of Cambridge, Cambridge, UK.
Mende N; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.
Clay A; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.
Ancliff P; Department of Haematology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Köglmeier J; Department of Haematology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Killick SB; University Hospitals Dorset NHS Foundation Trust, The Royal Bournemouth Hospital, Bournemouth, UK.
Kulasekararaj A; Department of Haematological Medicine, King's College Hospital NHS Foundation Trust and King's College London, London, UK.
Meyer S; Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Cancer Research Centre, Wilmslow Road, Manchester, UK.; Department of Paediatric Haematology and Oncology, Royal Manchester Children's Hospital, Manchester Foundation Trust, Manchester, Oxford Road, Manchester, UK.; Teenage and Adolescent Oncology, The Christie NHS Foundation Trust, Wilmslow Road, Manchester, UK.
Laurenti E; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.
Campbell PJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Kent DG; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK. .; Department of Haematology, University of Cambridge, Cambridge, UK. .; York Biomedical Research Institute, Department of Biology, University of York, York, UK. .
Nangalia J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. .; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK. .; Department of Haematology, University of Cambridge, Cambridge, UK. .
Warren AJ; Wellcome MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK. .; Department of Haematology, University of Cambridge, Cambridge, UK. .; Cambridge Institute for Medical Research, Keith Peters Building, Cambridge, UK. .
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Źródło:
Nature communications [Nat Commun] 2023 Aug 22; Vol. 14 (1), pp. 5092. Date of Electronic Publication: 2023 Aug 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Germ Cells*
Chromosomes, Human, Pair 7*
Humans ; Young Adult ; Adult ; Gene Dosage ; Hematopoietic Stem Cells ; Mutation
Czasopismo naukowe
Tytuł:
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Autorzy:
Erlacher M; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Partner Site Freiburg. .
Andresen F; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg.
Sukova M; Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
Stary J; Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
De Moerloose B; Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent.
Bosch JVWT; Department of Pediatric Hematology-Oncology, University Hospital Brussel, Brussels.
Dworzak M; St. Anna Children's Hospital, Medical University of Vienna, Department of Pediatrics and Adolescent Medicine, Vienna, Austria; St. Anna Children's Cancer Research Institute, Vienna.
Seidel MG; Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz.
Polychronopoulou S; Department of Pediatric Hematology-Oncology (T.A.O.), Aghia Sophia Children's Hospital, Athens, Greece.
Beier R; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover.
Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover.
Nathrath M; Department of Pediatric Hematology and Oncology, Klinikum Kassel, Kassel, Germany; Department of Pediatrics and Children's Cancer Research Center, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich.
Frühwald MC; Pediatrics and Adolescent Medicine, University Medical Center Augsburg, Augsburg.
Göhring G; Department of Human Genetics, Hannover Medical School, Hannover.
Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover.
Mayerhofer C; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg.
Lebrecht D; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg.
Ramamoorthy S; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Medical Bioinformatics and Systems Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg.
Yoshimi A; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg.
Strahm B; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg.
Wlodarski MW; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN.
Niemeyer CM; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Partner Site Freiburg.
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Źródło:
Haematologica [Haematologica] 2024 Feb 01; Vol. 109 (2), pp. 422-430. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Deletion*
Myelodysplastic Syndromes*/diagnosis
Myelodysplastic Syndromes*/genetics
Myelodysplastic Syndromes*/therapy
Humans ; Child ; Child, Preschool ; Infant ; Remission, Spontaneous ; Disease Progression ; Transcription Factors/genetics ; Monosomy ; Chromosomes, Human, Pair 7/genetics ; Intracellular Signaling Peptides and Proteins/genetics
SCR Disease Name:
Chromosome 7, monosomy
Czasopismo naukowe
Tytuł:
Genome-wide association study identifies genetic variants underlying footrot in Portuguese Merino sheep.
Autorzy:
Gaspar D; Centro de Biotecnologia Agrícola E Agro-Alimentar Do Alentejo (CEBAL)/ Instituto Politécnico de Beja (IPBeja), 7801-908, Beja, Portugal.; CIBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, InBIO Laboratório Associado, Universidade do Porto, Campus de Vairão, R. Padre Armando Quintas 7, 4485-661, Vairão, Portugal.; BIOPOLIS Program in Genomics, Biodiversity and Land Planning, Campus do Varão, Campus de Vairão, R. Padre Armando Quintas 7, 4485-661, Vairão, Portugal.
Ginja C; CIBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, InBIO Laboratório Associado, Universidade do Porto, Campus de Vairão, R. Padre Armando Quintas 7, 4485-661, Vairão, Portugal.; BIOPOLIS Program in Genomics, Biodiversity and Land Planning, Campus do Varão, Campus de Vairão, R. Padre Armando Quintas 7, 4485-661, Vairão, Portugal.; CIISA, Centro de Investigação Interdisciplinar em Sanidade Animal, Faculdade de Medicina Veterinária, Universidade de Lisboa, Av. Universidade Técnica, 1300-477, Lisboa, Portugal.
Carolino N; CIISA, Centro de Investigação Interdisciplinar em Sanidade Animal, Faculdade de Medicina Veterinária, Universidade de Lisboa, Av. Universidade Técnica, 1300-477, Lisboa, Portugal.; Instituto Nacional de Investigação Agrária E Veterinária, I.P. (INIAV, I.P.), Avenida da República, Quinta Do Marquês, 2780-157, Oeiras, Portugal.; Escola Universitária Vasco da Gama, Av. José R. Sousa Fernandes 197, 3020-210, Lordemão, Coimbra, Portugal.
Leão C; Centro de Biotecnologia Agrícola E Agro-Alimentar Do Alentejo (CEBAL)/ Instituto Politécnico de Beja (IPBeja), 7801-908, Beja, Portugal.; Instituto Nacional de Investigação Agrária E Veterinária, I.P. (INIAV, I.P.), Avenida da República, Quinta Do Marquês, 2780-157, Oeiras, Portugal.; MED - Mediterranean Institute for Agriculture, Environment and Development and CHANGE - Global Change and Sustainability Institute, CEBAL - Centro de Biotecnologia Agrícola e Agro-Alimentar do Alentejo, 7801-908, Beja, Portugal.
Monteiro H; ACOS - Agricultores do Sul, Beja, Portugal.
Tábuas L; ACOS - Agricultores do Sul, Beja, Portugal.
Branco S; MED-Mediterranean Institute for Agriculture, Environment and Development and CHANGE - Global Change and Sustainability Institute, University of Évora, Polo da Mitra, Ap. 94, 7006-554, Évora, Portugal.; Departamento de Medicina Veterinária, Escola de Ciências E Tecnologia, Évora University, Pólo da Mitra Ap. 94, 7002-554, Évora, Portugal.
Padre L; MED-Mediterranean Institute for Agriculture, Environment and Development and CHANGE - Global Change and Sustainability Institute, University of Évora, Polo da Mitra, Ap. 94, 7006-554, Évora, Portugal.
Caetano P; MED-Mediterranean Institute for Agriculture, Environment and Development and CHANGE - Global Change and Sustainability Institute, University of Évora, Polo da Mitra, Ap. 94, 7006-554, Évora, Portugal.
Romão R; MED-Mediterranean Institute for Agriculture, Environment and Development and CHANGE - Global Change and Sustainability Institute, University of Évora, Polo da Mitra, Ap. 94, 7006-554, Évora, Portugal.
Matos C; ACOS - Agricultores do Sul, Beja, Portugal.
Ramos AM; Centro de Biotecnologia Agrícola E Agro-Alimentar Do Alentejo (CEBAL)/ Instituto Politécnico de Beja (IPBeja), 7801-908, Beja, Portugal.; MED - Mediterranean Institute for Agriculture, Environment and Development and CHANGE - Global Change and Sustainability Institute, CEBAL - Centro de Biotecnologia Agrícola e Agro-Alimentar do Alentejo, 7801-908, Beja, Portugal.
Bettencourt E; MED-Mediterranean Institute for Agriculture, Environment and Development and CHANGE - Global Change and Sustainability Institute, University of Évora, Polo da Mitra, Ap. 94, 7006-554, Évora, Portugal.
Usié A; Centro de Biotecnologia Agrícola E Agro-Alimentar Do Alentejo (CEBAL)/ Instituto Politécnico de Beja (IPBeja), 7801-908, Beja, Portugal. .; MED - Mediterranean Institute for Agriculture, Environment and Development and CHANGE - Global Change and Sustainability Institute, CEBAL - Centro de Biotecnologia Agrícola e Agro-Alimentar do Alentejo, 7801-908, Beja, Portugal. .
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Źródło:
BMC genomics [BMC Genomics] 2024 Jan 23; Vol. 25 (1), pp. 100. Date of Electronic Publication: 2024 Jan 23.
Typ publikacji:
Journal Article
MeSH Terms:
Genome-Wide Association Study*
Sheep, Domestic*
Humans ; Sheep ; Animals ; Portugal ; Ethnicity ; Chromosomes, Human, Pair 7 ; Genetic Predisposition to Disease ; Heterogeneous-Nuclear Ribonucleoprotein Group C
Czasopismo naukowe
Tytuł:
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease.
Autorzy:
Iyengar VV; Department of Immunology, Bai Jerbai Wadia Hospital for Children, Acharya Dhonde Marg, Parel, Mumbai, Maharashtra, 400012, India.
Chougule A; Department of Immunology, Bai Jerbai Wadia Hospital for Children, Acharya Dhonde Marg, Parel, Mumbai, Maharashtra, 400012, India.
Gowri V; Department of Immunology, Bai Jerbai Wadia Hospital for Children, Acharya Dhonde Marg, Parel, Mumbai, Maharashtra, 400012, India.
Taur P; Department of Immunology, Bai Jerbai Wadia Hospital for Children, Acharya Dhonde Marg, Parel, Mumbai, Maharashtra, 400012, India.
Bodhanwala M; Department of Immunology, Bai Jerbai Wadia Hospital for Children, Acharya Dhonde Marg, Parel, Mumbai, Maharashtra, 400012, India.
Desai MM; Department of Immunology, Bai Jerbai Wadia Hospital for Children, Acharya Dhonde Marg, Parel, Mumbai, Maharashtra, 400012, India. .
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Źródło:
Journal of clinical immunology [J Clin Immunol] 2024 Jan 17; Vol. 44 (2), pp. 43. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Pancytopenia*/etiology
Pancytopenia*/genetics
Humans ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 7
SCR Disease Name:
Chromosome 7, monosomy
Raport
Tytuł:
Clinical and molecular profiling of AML patients with chromosome 7 or 7q deletions in the context of TP53 alterations and venetoclax treatment.
Autorzy:
Abbas HA; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Department of Hematology and Medical Oncology, The University of Texas Health Science Center, Houston, TX, USA.
Ayoub E; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Sun H; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Department of Biostatistics, Division of Basic Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Kanagal-Shamanna R; Department of Hematopathology, Division of Pathology-Lab Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Short NJ; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Issa G; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Yilmaz M; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Pierce S; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Rivera D; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Cham B; Department of Internal Medicine, The University of Texas Health Science Center, Houston, TX, USA.
Wing S; Department of Internal Medicine, The University of Texas Health Science Center, Houston, TX, USA.
Li Z; Department of Biostatistics, Division of Basic Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Hammond D; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Jabbour E; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Borthakur G; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Garcia-Manero G; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Andreeff M; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Daver N; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Kadia T; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Konopleva M; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
DiNardo C; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Ravandi F; Department of Leukemia, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
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Źródło:
Leukemia & lymphoma [Leuk Lymphoma] 2022 Dec; Vol. 63 (13), pp. 3105-3116. Date of Electronic Publication: 2022 Sep 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Chromosomes, Human, Pair 7*/genetics
Leukemia, Myeloid, Acute*/diagnosis
Leukemia, Myeloid, Acute*/drug therapy
Leukemia, Myeloid, Acute*/genetics
Humans ; Retrospective Studies ; Chromosome Aberrations ; Chromosome Deletion ; Tumor Suppressor Protein p53/genetics
Czasopismo naukowe
Tytuł:
Discovery of a MUC3B gene reconstructs the membrane mucin gene cluster on human chromosome 7.
Autorzy:
Lang T; Big Data Decision Institution, Jinan University, Tianhe, Guangzhou, China.
Pelaseyed T; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
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Źródło:
PloS one [PLoS One] 2022 Oct 18; Vol. 17 (10), pp. e0275671. Date of Electronic Publication: 2022 Oct 18 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 7*/metabolism
Mucins*/metabolism
Animals ; Humans ; Mice ; Amino Acid Sequence ; Intestinal Mucosa/metabolism ; Mucin-2/genetics ; Multigene Family ; Sugars/metabolism
Czasopismo naukowe
Tytuł:
L-asparaginase as an efficient salvage therapy for refractory acute myeloid leukemia with chromosome 7 abnormalities: a case series.
Autorzy:
Noguchi K; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan.
Ikawa Y; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan. .
Takenaka M; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan.
Sakai Y; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan.
Fujiki T; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan.
Kuroda R; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan.
Maeba H; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan.
Goto H; Division of Hematology/Oncology, Kanagawa Children's Medical Center, Kanagawa, Japan.
Kitoh T; Laboratory of Pediatrics, School of Pharmacy, Aichi Gakuin University, Aichi, Japan.
Wada T; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan.
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Źródło:
International journal of hematology [Int J Hematol] 2023 Sep; Vol. 118 (3), pp. 406-410. Date of Electronic Publication: 2023 Apr 06.
Typ publikacji:
Journal Article
MeSH Terms:
Leukemia, Myeloid, Acute*/drug therapy
Leukemia, Myeloid, Acute*/genetics
Hematopoietic Stem Cell Transplantation*
Adult ; Child ; Humans ; Asparaginase ; Salvage Therapy ; Chromosomes, Human, Pair 7/genetics ; Chromosome Aberrations ; Prognosis ; Remission Induction ; Retrospective Studies
SCR Disease Name:
Chromosome 7, monosomy
Czasopismo naukowe
Tytuł:
Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
Autorzy:
Lühmann JL; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
Schmidt G; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
Auber B; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
Bergmann AK; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
Brandau O; SYNLAB MVZ Humangenetik Mannheim GmbH, Mannheim, Germany.
Louis A; Labor für Humangenetische Diagnostik, Mannheim, Germany.
Hentze S; Labor für Humangenetische Diagnostik, Mannheim, Germany.
Eisfeld K; Labor für Humangenetische Diagnostik, Mannheim, Germany.
Schlegelberger B; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
Klaes R; SYNLAB MVZ Humangenetik Mannheim GmbH, Mannheim, Germany.
Steinemann D; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1849-1857. Date of Electronic Publication: 2023 Apr 20.
Typ publikacji:
Journal Article
MeSH Terms:
Williams Syndrome*/genetics
Humans ; In Situ Hybridization, Fluorescence ; Genetic Testing ; Phenotype ; Chromosome Aberrations ; Chromosomes, Human, Pair 7/genetics ; Chromosome Deletion
Czasopismo naukowe
Tytuł:
Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers.
Autorzy:
Reddy R; Miller School of Medicine, University of Miami 1120 NW 14th Street, Miami, FL.
Efimenko I; Miller School of Medicine, University of Miami 1120 NW 14th Street, Miami, FL.
Chertman W; Miller School of Medicine, University of Miami 1120 NW 14th Street, Miami, FL.
Kohn T; The James Buchanan Brady Urological Institute and Department of Urology, Johns Hopkins University School of Medicine, Baltimore, MD.
Diaz P; Department of Urology, University of Miami Miller School of Medicine, Miami, FL.
Seetharam D; Department of Urology, University of Miami Miller School of Medicine, Miami, FL.
Khodamoradi K; Department of Urology, University of Miami Miller School of Medicine, Miami, FL.
Kresch E; Department of Urology, University of Miami Miller School of Medicine, Miami, FL.
Ramasamy R; Department of Urology, University of Miami Miller School of Medicine, Miami, FL. Electronic address: .
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Źródło:
Urology [Urology] 2022 Jan; Vol. 159, pp. 83-86. Date of Electronic Publication: 2021 Oct 20.
Typ publikacji:
Case Reports
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 7*
Exome Sequencing*
COVID-19/*complications
Orchitis/*virology
Adult ; Angiotensin-Converting Enzyme 2/blood ; Frameshift Mutation ; Humans ; Male ; Siblings
Raport
Tytuł:
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR.
Autorzy:
Xu M; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Mehl L; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Zhang T; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Thakur R; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Sowards H; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Myers T; Laboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Jessop L; Laboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Chesi A; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Johnson ME; Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Wells AD; Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Michael HT; Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA.
Bunda P; Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA.
Jones K; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Higson H; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Hennessey RC; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Jermusyk A; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Kovacs MA; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Landi MT; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Iles MM; Leeds Institute of Medical Research at St. James's, University of Leeds, Leeds LS2 9NL, UK; Leeds Institute for Data Analytics, University of Leeds, Leeds LS2 9NL, UK.
Goldstein AM; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Choi J; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Chanock SJ; Laboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Grant SFA; Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Chari R; Genome Modification Core, Frederick National Lab for Cancer Research, National Cancer Institute, Frederick, MD 21701, USA.
Merlino G; Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA.
Law MH; Statistical Genetics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; School of Biomedical Sciences, Faculty of Health, and Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Kelvin Grove, QLD 4059, Australia.
Brown KM; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA. Electronic address: .
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Corporate Authors:
Melanoma Meta-Analysis Consortium
Źródło:
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1611-1630. Date of Electronic Publication: 2021 Aug 02.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 7*
Genetic Loci*
Basic Helix-Loop-Helix Transcription Factors/*genetics
Carcinoma, Squamous Cell/*genetics
Melanocytes/*metabolism
Melanoma/*genetics
Receptors, Aryl Hydrocarbon/*genetics
Skin Neoplasms/*genetics
Alleles ; Basic Helix-Loop-Helix Transcription Factors/metabolism ; Carcinogenesis/genetics ; Carcinogenesis/metabolism ; Carcinogenesis/pathology ; Carcinoma, Squamous Cell/metabolism ; Carcinoma, Squamous Cell/pathology ; Chromatin/chemistry ; Chromatin/metabolism ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Genome, Human ; Genome-Wide Association Study ; Humans ; Melanocytes/drug effects ; Melanocytes/pathology ; Melanocytes/radiation effects ; Melanoma/metabolism ; Melanoma/pathology ; Polychlorinated Dibenzodioxins/toxicity ; Polymorphism, Single Nucleotide ; Primary Cell Culture ; Promoter Regions, Genetic ; Receptors, Aryl Hydrocarbon/metabolism ; Skin Neoplasms/metabolism ; Skin Neoplasms/pathology ; Sunbathing ; Ultraviolet Rays/adverse effects
Czasopismo naukowe
Tytuł:
Spatiotemporal 7q11.23 protein network analysis implicates the role of DNA repair pathway during human brain development.
Autorzy:
Chen L; Shanghai Mental Health Center,' Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, 200030, China.
Wang W; Shanghai Mental Health Center,' Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, 200030, China.; Shanghai Key Laboratory of Psychotic Disorders, Shanghai, 200030, China.
Cai W; Shanghai Mental Health Center,' Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, 200030, China.
Song W; Shanghai Mental Health Center,' Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, 200030, China.
Qian W; Shanghai Mental Health Center,' Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, 200030, China.
Lin GN; Shanghai Mental Health Center,' Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, 200030, China. .; Shanghai Key Laboratory of Psychotic Disorders, Shanghai, 200030, China. .
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Źródło:
Scientific reports [Sci Rep] 2021 Apr 15; Vol. 11 (1), pp. 8246. Date of Electronic Publication: 2021 Apr 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Repair*/genetics
Protein Interaction Maps*/genetics
Brain/*embryology
Chromosomes, Human, Pair 7/*genetics
Adolescent ; Adult ; Brain/metabolism ; Child ; Child, Preschool ; Chromosomes, Human, Pair 7/metabolism ; Computational Biology ; DNA Copy Number Variations ; Female ; Gene Expression Profiling ; Gene Expression Regulation, Developmental ; Gene Regulatory Networks/genetics ; HEK293 Cells ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Disorders/genetics ; Pregnancy ; Proteome/analysis ; Proteome/genetics ; Proteome/metabolism ; Signal Transduction/genetics ; Transcriptome/genetics ; Young Adult
Czasopismo naukowe
Tytuł:
Prenatal detection of a 7q11.21 microdeletion (517-605 kb): A variant with normal characteristics at birth (STROBE).
Autorzy:
Zhang H; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Li L; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Yu Y; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Li L; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Jiang Y; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Liu R; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
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Źródło:
Medicine [Medicine (Baltimore)] 2021 Feb 12; Vol. 100 (6), pp. e24560.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
Chromosomes, Human, Pair 7*
Prenatal Diagnosis*
Base Sequence ; Female ; Humans ; Karyotyping ; Microarray Analysis ; Pregnancy ; Sequence Deletion
Czasopismo naukowe
Tytuł:
Engineering of targeted megabase-scale deletions in human induced pluripotent stem cells.
Autorzy:
Kotini AG; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
Papapetrou EP; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: .
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Źródło:
Experimental hematology [Exp Hematol] 2020 Jul; Vol. 87, pp. 25-32. Date of Electronic Publication: 2020 Jun 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 7*/genetics
Chromosomes, Human, Pair 7*/metabolism
Induced Pluripotent Stem Cells/*metabolism
Animals ; Humans ; Integrases/genetics ; Integrases/metabolism ; Mice
Czasopismo naukowe
Tytuł:
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Autorzy:
Zlotina A; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341. .
Melnik O; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Fomicheva Y; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Skitchenko R; Computer Technologies Laboratory, ITMO University, Saint Petersburg, Russia.
Sergushichev A; Computer Technologies Laboratory, ITMO University, Saint Petersburg, Russia.
Shagimardanova E; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia, 420008.
Gusev O; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia, 420008.; RIKEN Cluster for Science, Technology and Innovation Hub, RIKEN, Yokohama, 230-0045, Japan.
Gazizova G; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia, 420008.
Loevets T; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Vershinina T; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Kozyrev I; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Gordeev M; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Vasichkina E; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Pervunina T; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Kostareva A; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341. .; Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institute, 17176, Stockholm, Sweden. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2020 Nov 20; Vol. 13 (1), pp. 175. Date of Electronic Publication: 2020 Nov 20.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Duplication*
Abnormalities, Multiple/*genetics
Chromosomes, Human, Pair 7/*genetics
Coloboma/*genetics
Congenital Abnormalities/*genetics
Double Outlet Right Ventricle/*genetics
Mandibulofacial Dysostosis/*genetics
Microphthalmos/*genetics
Optic Disk/*abnormalities
Adult ; Chromosomes, Human, Pair 7/ultrastructure ; Comparative Genomic Hybridization ; Female ; Humans ; Infant ; Male ; Membrane Proteins/genetics ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Syndrome ; Umbilical Arteries/abnormalities
SCR Disease Name:
Patterson Stevenson syndrome
Czasopismo naukowe
Tytuł:
High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.
Autorzy:
Cavallo F; Department of Oncology and Hemato-Oncology, University of Milan, c/o High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Troglio F; High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Fagà G; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; IFOM, the FIRC Institute of Molecular Oncology, Via Adamello 16, 20139, Milan, Italy.
Fancelli D; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; IFOM, the FIRC Institute of Molecular Oncology, Via Adamello 16, 20139, Milan, Italy.
Shyti R; High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Trattaro S; Department of Oncology and Hemato-Oncology, University of Milan, c/o High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Zanella M; High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Evotec SE, Hamburg, Germany.
D'Agostino G; High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
Hughes JM; High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; FPO - IRCCS, Candiolo Cancer Institute, SP 142 Km 3.95, 10060, Candiolo, TO, Italy.
Cera MR; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; IFOM, the FIRC Institute of Molecular Oncology, Via Adamello 16, 20139, Milan, Italy.
Pasi M; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; IFOM, the FIRC Institute of Molecular Oncology, Via Adamello 16, 20139, Milan, Italy.
Gabriele M; High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, USA.
Lazzarin M; Department of Oncology and Hemato-Oncology, University of Milan, c/o High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Mihailovich M; Department of Oncology and Hemato-Oncology, University of Milan, c/o High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Kooy F; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Rosa A; Department of Biology and Biotechnology Charles Darwin, Sapienza University of Rome, P.le A. Moro 5, 00185, Rome, Italy.; Center for Life Nano Science, Istituto Italiano Di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy.
Mercurio C; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; IFOM, the FIRC Institute of Molecular Oncology, Via Adamello 16, 20139, Milan, Italy.
Varasi M; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.; IFOM, the FIRC Institute of Molecular Oncology, Via Adamello 16, 20139, Milan, Italy.
Testa G; High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy. .; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy. .; Human Technopole, Via Cristina Belgioioso, 171, 20157, Milan, Italy. .
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Źródło:
Molecular autism [Mol Autism] 2020 Nov 19; Vol. 11 (1), pp. 88. Date of Electronic Publication: 2020 Nov 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
High-Throughput Screening Assays*
Autism Spectrum Disorder/*pathology
Cerebral Cortex/*pathology
Chromosome Duplication/*genetics
Chromosomes, Human, Pair 7/*genetics
Histone Deacetylase Inhibitors/*pharmacology
Neurons/*pathology
Transcription Factors, TFII/*genetics
Autism Spectrum Disorder/genetics ; Chromosomes, Human, Pair 7/metabolism ; DNA Copy Number Variations/genetics ; Drug Evaluation, Preclinical ; Gene Expression Regulation/drug effects ; Humans ; Induced Pluripotent Stem Cells/drug effects ; Induced Pluripotent Stem Cells/metabolism ; Neurogenesis/drug effects ; Neurons/drug effects ; Neurons/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Transcription Factors, TFII/metabolism ; Transcription, Genetic/drug effects
Czasopismo naukowe
Tytuł:
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability.
Autorzy:
Paduano F; Medical Genetics Unit, University 'Magna Graecia', 88100 Catanzaro, Italy.; Tecnologica Research Institute and Marrelli Health, Biomedical Section, Stem Cells Unit, 88900 Crotone, Italy.; Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, località Germaneto, 88100 Catanzaro, Italy.
Colao E; Medical Genetics Unit, University 'Magna Graecia', 88100 Catanzaro, Italy.
Loddo S; Medical Genetics Laboratory, Bambino Gesù Pediatric Hospital, IRCCS, 00165 Rome, Italy.
Orlando V; Medical Genetics Laboratory, Bambino Gesù Pediatric Hospital, IRCCS, 00165 Rome, Italy.
Trapasso F; Medical Genetics Unit, University 'Magna Graecia', 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, località Germaneto, 88100 Catanzaro, Italy.
Novelli A; Medical Genetics Laboratory, Bambino Gesù Pediatric Hospital, IRCCS, 00165 Rome, Italy.
Perrotti N; Medical Genetics Unit, University 'Magna Graecia', 88100 Catanzaro, Italy.; Department of Health Sciences, University 'Magna Graecia', 88100 Catanzaro, Italy.
Iuliano R; Medical Genetics Unit, University 'Magna Graecia', 88100 Catanzaro, Italy.; Department of Health Sciences, University 'Magna Graecia', 88100 Catanzaro, Italy.
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Źródło:
Genes [Genes (Basel)] 2020 May 08; Vol. 11 (5). Date of Electronic Publication: 2020 May 08.
Typ publikacji:
Case Reports
MeSH Terms:
Chromosomes, Human, Pair 15/*genetics
Chromosomes, Human, Pair 7/*genetics
Chromosomes, Human, X/*genetics
Epilepsies, Myoclonic/*genetics
Microcephaly/*genetics
Neurodevelopmental Disorders/*genetics
Adult ; Chromosomes, Human, Pair 15/ultrastructure ; Chromosomes, Human, Pair 7/ultrastructure ; Chromosomes, Human, X/ultrastructure ; Consanguinity ; DNA Copy Number Variations ; Female ; Gene Duplication ; Genetic Association Studies ; Humans ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics ; Pedigree ; Receptors, Cytokine/genetics ; Sequence Deletion ; Tissue Array Analysis ; alpha7 Nicotinic Acetylcholine Receptor/genetics
Raport
Tytuł:
Spontaneous resolution of refractory cytopenia of childhood with monosomy 7 in an infant without an identifiable genetic cause.
Autorzy:
Tsang MMC; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong SAR.
Ha SY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Children's Hospital, Hong Kong SAR.
Chan N; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR.
So CC; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR.
Cheuk DKL; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Children's Hospital, Hong Kong SAR.
Chan GCF; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Children's Hospital, Hong Kong SAR.
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Źródło:
Pediatric blood & cancer [Pediatr Blood Cancer] 2022 Oct; Vol. 69 (10), pp. e29654. Date of Electronic Publication: 2022 Apr 07.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Chromosome Deletion*
Myelodysplastic Syndromes*/genetics
Chromosomes, Human, Pair 7/genetics ; Humans ; Infant
SCR Disease Name:
Chromosome 7, monosomy
Raport
Tytuł:
A heterodimer of evolved designer-recombinases precisely excises a human genomic DNA locus.
Autorzy:
Lansing F; Medical Faculty and University Hospital Carl Gustav Carus, UCC Section Medical Systems Biology, TU Dresden, 01307 Dresden, Germany.
Paszkowski-Rogacz M; Medical Faculty and University Hospital Carl Gustav Carus, UCC Section Medical Systems Biology, TU Dresden, 01307 Dresden, Germany.
Schmitt LT; Medical Faculty and University Hospital Carl Gustav Carus, UCC Section Medical Systems Biology, TU Dresden, 01307 Dresden, Germany.
Schneider PM; Medical Faculty and University Hospital Carl Gustav Carus, UCC Section Medical Systems Biology, TU Dresden, 01307 Dresden, Germany.
Rojo Romanos T; Medical Faculty and University Hospital Carl Gustav Carus, UCC Section Medical Systems Biology, TU Dresden, 01307 Dresden, Germany.
Sonntag J; Medical Faculty and University Hospital Carl Gustav Carus, UCC Section Medical Systems Biology, TU Dresden, 01307 Dresden, Germany.
Buchholz F; Medical Faculty and University Hospital Carl Gustav Carus, UCC Section Medical Systems Biology, TU Dresden, 01307 Dresden, Germany.
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Źródło:
Nucleic acids research [Nucleic Acids Res] 2020 Jan 10; Vol. 48 (1), pp. 472-485.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Base Sequence*
Genome, Human*
Sequence Deletion*
Chromosomes, Human, Pair 7/*chemistry
DNA Nucleotidyltransferases/*genetics
Gene Editing/*methods
Chromosomes, Human, Pair 7/metabolism ; Cloning, Molecular ; Computational Biology/methods ; DNA Nucleotidyltransferases/metabolism ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Gene Expression ; Genetic Loci ; Genetic Vectors/chemistry ; Genetic Vectors/metabolism ; Humans ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism
Czasopismo naukowe
Tytuł:
Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis.
Autorzy:
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_.
Lin YH; Department of Obstetrics and Gynecology, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lee MS; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen YY; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
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Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2020 Jan; Vol. 59 (1), pp. 146-149.
Typ publikacji:
Case Reports
MeSH Terms:
Chromosomes, Human, Pair 7*
Amniocentesis/*methods
Amnion/*cytology
Trisomy/*diagnosis
Adult ; Cells, Cultured ; Chromosomes, Human, Pair 20/genetics ; Female ; Humans ; Mosaicism ; Pregnancy ; Trisomy/genetics
SCR Disease Name:
Chromosome 20, trisomy
Raport
Tytuł:
Familial Monosomy 7 Syndrome Associated with Myelodysplasia.
Autorzy:
Rathi S; Department of Pediatrics, Topiwala National Medical College and BYL Nair Charitable Hospital, A L Nair Road, Mumbai Central, Mumbai, Maharashtra, 400 008, India. .
Kondekar S; Department of Pediatrics, Topiwala National Medical College and BYL Nair Charitable Hospital, A L Nair Road, Mumbai Central, Mumbai, Maharashtra, 400 008, India.
Kadakia P; Department of Oncology, Topiwala National Medical College and BYL Nair Charitable Hospital, A L Nair Road, Mumbai Central, Mumbai, Maharashtra, India.
Sawardekar S; Department of Pharmacology, Topiwala National Medical College and BYL Nair Charitable Hospital, A L Nair Road, Mumbai Central, Mumbai, Maharashtra, India.
De T; Department of Pediatrics, Topiwala National Medical College and BYL Nair Charitable Hospital, A L Nair Road, Mumbai Central, Mumbai, Maharashtra, 400 008, India.
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Źródło:
Indian journal of pediatrics [Indian J Pediatr] 2019 Nov; Vol. 86 (11), pp. 1059. Date of Electronic Publication: 2019 Jun 17.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 7*
Genetic Predisposition to Disease/*genetics
Myelodysplastic Syndromes/*complications
Myelodysplastic Syndromes/*genetics
Bone Marrow ; Child ; Child, Preschool ; Hemoglobins ; Humans ; Male ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/physiopathology
SCR Disease Name:
Chromosome 7, monosomy
Raport

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