Temat: "DIGEORGE syndrome" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome.
Autorzy:: Walkowiak D; Department of Organization and Management in Health Care, Poznan University of Medical Sciences, Przybyszewskiego 39, Poznań, 60-356, Poland. .
Domaradzki J; Department of Social Sciences and Humanities, Poznan University of Medical Sciences, Poznań, Poland.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 04; Vol. 18 (1), pp. 379. Date of Electronic Publication: 2023 Dec 04.
Typ publikacji:: Journal Article
MeSH Terms:: DiGeorge Syndrome*/diagnosis
Female ; Child ; Humans ; Quality of Life ; Parents/psychology ; Mothers ; Caregivers/psychology

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Skocz do pozycji: 2.

Tytuł:: Structural Connectivity and Emotion Recognition Impairment in Children and Adolescents with Chromosome 22q11.2 Deletion Syndrome.
Autorzy:: Sanders AFP; Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA.; Department of Psychiatry, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Hobbs DA; Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA.; Department of Radiology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Knaus TA; Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA.
Beaton EA; Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA. .; Pokaż więcej
Źródło:: Journal of autism and developmental disorders [J Autism Dev Disord] 2023 Oct; Vol. 53 (10), pp. 4021-4034. Date of Electronic Publication: 2022 Aug 02.
Typ publikacji:: Journal Article
MeSH Terms:: DiGeorge Syndrome*/diagnostic imaging
DiGeorge Syndrome*/genetics
Autism Spectrum Disorder*/genetics
White Matter*
Humans ; Adolescent ; Child ; Emotions ; Chromosomes ; Chromosome Deletion

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Skocz do pozycji: 3.

Tytuł:: An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience
Autorzy:: Denkboy Öngen Y; Bursa Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
Özemri Sağ Ş; Bursa Uludağ University Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey
Temel ŞG; Bursa Uludağ University Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey
Eren E; Bursa Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey; Pokaż więcej
Źródło:: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Aug 23; Vol. 15 (3), pp. 285-292. Date of Electronic Publication: 2023 Apr 19.
Typ publikacji:: Journal Article
MeSH Terms:: DiGeorge Syndrome*/complications
DiGeorge Syndrome*/diagnosis
DiGeorge Syndrome*/genetics
Hypocalcemia*/diagnosis
Hypocalcemia*/genetics
Diabetes Mellitus, Type 2*/genetics
Hypoparathyroidism*/diagnosis
Hypoparathyroidism*/complications
Dwarfism*/genetics
Humans ; Calcium ; In Situ Hybridization, Fluorescence ; Parathyroid Hormone ; Chromosome Deletion ; Phosphorus

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Skocz do pozycji: 4.

Tytuł:: Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome.
Autorzy:: Chan CH; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Lam YY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Wong N; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Geng L; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Zhang J; Ming Wai Lau Centre for Reparative Medicine, Hong Kong node, Karolinska Institutet, Units 608-613 Building 15 Science Park, Hong Kong, China.
Ahola V; Ming Wai Lau Centre for Reparative Medicine, Hong Kong node, Karolinska Institutet, Units 608-613 Building 15 Science Park, Hong Kong, China.
Zare A; Ming Wai Lau Centre for Reparative Medicine, Hong Kong node, Karolinska Institutet, Units 608-613 Building 15 Science Park, Hong Kong, China.
Li RA; Ming Wai Lau Centre for Reparative Medicine, Hong Kong node, Karolinska Institutet, Units 608-613 Building 15 Science Park, Hong Kong, China.; Dr. Li Dak-Sum Research Centre, The University of Hong Kong - Karolinska Institutet Collaboration in Regenerative Medicine, The University of Hong Kong, Hong Kong, China.
Lanner F; Ming Wai Lau Centre for Reparative Medicine, Stockholm node, Karolinska Institutet, Solnavagen 9, 17165, Stockholm, Sweden.; Department of Clinical Sciences, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.; Division of Obstetrics and Gynecology, Karolinska Universitetssjukhuset, Stockholm, Sweden.
Keung W; Dr. Li Dak-Sum Research Centre, The University of Hong Kong - Karolinska Institutet Collaboration in Regenerative Medicine, The University of Hong Kong, Hong Kong, China.
Cheung YF; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China. .; Ming Wai Lau Centre for Reparative Medicine, Hong Kong node, Karolinska Institutet, Units 608-613 Building 15 Science Park, Hong Kong, China. .; Dr. Li Dak-Sum Research Centre, The University of Hong Kong - Karolinska Institutet Collaboration in Regenerative Medicine, The University of Hong Kong, Hong Kong, China. .; Pokaż więcej
Źródło:: Communications biology [Commun Biol] 2023 Sep 22; Vol. 6 (1), pp. 969. Date of Electronic Publication: 2023 Sep 22.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: DiGeorge Syndrome*/complications
DiGeorge Syndrome*/genetics
Tetralogy of Fallot*/complications
Induced Pluripotent Stem Cells*
RGS Proteins*
Humans ; Arrhythmias, Cardiac/etiology ; Myocytes, Cardiac

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Skocz do pozycji: 5.

Tytuł:: Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay.
Autorzy:: Wang J; Changzhou Maternity and Child Health Care Hospital, Changzhou, 213003, Jiangsu Province, China.
Wang W; Changzhou Maternity and Child Health Care Hospital, Changzhou, 213003, Jiangsu Province, China.
Zhou W; Changzhou Maternity and Child Health Care Hospital, Changzhou, 213003, Jiangsu Province, China.
Zhou Y; Xingzhi Biotechnology Co., LTD, Suzhou, 215000, Jiangsu Province, China.
Zhou L; Changzhou Maternity and Child Health Care Hospital, Changzhou, 213003, Jiangsu Province, China.
Wang X; Xingzhi Biotechnology Co., LTD, Suzhou, 215000, Jiangsu Province, China.
Yu B; Changzhou Maternity and Child Health Care Hospital, Changzhou, 213003, Jiangsu Province, China. .
Zhang B; Changzhou Maternity and Child Health Care Hospital, Changzhou, 213003, Jiangsu Province, China. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 08; Vol. 18 (1), pp. 278. Date of Electronic Publication: 2023 Sep 08.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Noninvasive Prenatal Testing*
DiGeorge Syndrome*/diagnosis
DiGeorge Syndrome*/genetics
Cell-Free Nucleic Acids*
Pregnancy ; Female ; Humans ; Retrospective Studies ; Multiplex Polymerase Chain Reaction
SCR Disease Name:: Chromosome 22q11.2 Microduplication Syndrome

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Skocz do pozycji: 6.

Tytuł:: Parental Expressed Emotion, Parenting Stress, and Behavioral Problems of Young Children with 22q11.2 Deletion Syndrome and Idiopathic Autism Spectrum Disorder.
Autorzy:: Serur Y; The Child Psychiatry Division, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 5262000, Ramat Gan, Israel. .; The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 5262000, Ramat Gan, Israel. .
Sher-Censor E; The Interdisciplinary MA and PhD Programs in Child Development, School of Psychological Sciences, and The Center for the Study of Child Development, University of Haifa, 3498838, Haifa, Israel.
Sofrin-Frumer D; The Child Psychiatry Division, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 5262000, Ramat Gan, Israel.
Daon K; The Child Psychiatry Division, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 5262000, Ramat Gan, Israel.
Sobol-Havia D; The Child Psychiatry Division, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 5262000, Ramat Gan, Israel.
Weinberger R; Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, 69978, Tel Aviv, Israel.
Shulman C; The Paul Baerwald School of Social Work and Social Welfare, Hebrew University of Jerusalem, Jerusalem, Israel.
Gothelf D; The Child Psychiatry Division, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 5262000, Ramat Gan, Israel.; Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, 69978, Tel Aviv, Israel.; Pokaż więcej
Źródło:: Child psychiatry and human development [Child Psychiatry Hum Dev] 2023 Aug; Vol. 54 (4), pp. 1085-1093. Date of Electronic Publication: 2022 Jan 27.
Typ publikacji:: Journal Article
MeSH Terms:: Autism Spectrum Disorder*/genetics
Problem Behavior*
DiGeorge Syndrome*/genetics
DiGeorge Syndrome*/psychology
Child ; Humans ; Child, Preschool ; Parenting/psychology ; Expressed Emotion ; Parents

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Skocz do pozycji: 7.

Tytuł:: Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.
Autorzy:: Shin W; Department of Bioinformatics - BiGCaT, NUTRIM, Maastricht University, Maastricht, 6229 ER, The Netherlands.
Kutmon M; Department of Bioinformatics - BiGCaT, NUTRIM, Maastricht University, Maastricht, 6229 ER, The Netherlands.; Maastricht Centre for Systems Biology (MaCSBio), Maastricht University, Maastricht, The Netherlands.
Mina E; Leiden University, Leiden, The Netherlands.
van Amelsvoort T; Psychiatry & Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands.
Evelo CT; Department of Bioinformatics - BiGCaT, NUTRIM, Maastricht University, Maastricht, 6229 ER, The Netherlands.; Maastricht Centre for Systems Biology (MaCSBio), Maastricht University, Maastricht, The Netherlands.
Ehrhart F; Department of Bioinformatics - BiGCaT, NUTRIM, Maastricht University, Maastricht, 6229 ER, The Netherlands. .; Psychiatry & Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 24; Vol. 18 (1), pp. 335. Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: DiGeorge Syndrome*/genetics
Heart Defects, Congenital*
Humans ; Phosphatidylinositol 3-Kinases ; Phenotype ; Gene Expression Profiling

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Skocz do pozycji: 8.

Tytuł:: Cancer-associated fibroblasts in early-stage lung adenocarcinoma correlate with tumor aggressiveness.
Autorzy:: Vasiukov G; Department of Biomedical Engineering, School of Engineering, Vanderbilt University, Nashville, TN, USA.
Zou Y; Division of Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Senosain MF; Division of Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Rahman JSM; Division of Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Antic S; Division of Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Young KM; Department of Biomedical Engineering, School of Engineering, Vanderbilt University, Nashville, TN, USA.
Grogan EL; Division of Thoracic Surgery, Vanderbilt University Medical Center, Nashville, TN, USA.
Kammer MN; Division of Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Maldonado F; Division of Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Reinhart-King CA; Department of Biomedical Engineering, School of Engineering, Vanderbilt University, Nashville, TN, USA. .
Massion PP; Division of Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Oct 17; Vol. 13 (1), pp. 17604. Date of Electronic Publication: 2023 Oct 17.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Cancer-Associated Fibroblasts*
Adenocarcinoma of Lung*/genetics
Lung Neoplasms*/genetics
DiGeorge Syndrome*
Humans ; Aggression ; Prognosis ; Biomarkers, Tumor/genetics

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Skocz do pozycji: 9.

Tytuł:: Suppressive stroma-immune prognostic signature impedes immunotherapy in ovarian cancer and can be reversed by PDGFRB inhibitors.
Autorzy:: Yang D; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.
Duan MH; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.; Department of Medical Imaging, Sun Yat-Sen University Cancer Center, Guangzhou, China.
Yuan QE; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.; Department of Gynecological Oncology, Sun Yat-Sen University Cancer Center, Guangzhou, China.
Li ZL; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.
Luo CH; Department of Gynecological Oncology, Sun Yat-Sen University Cancer Center, Guangzhou, China.
Cui LY; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.
Li LC; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.
Xiao Y; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.; Department of Intensive Care Unit, Sun Yat-Sen University Cancer Center, Guangzhou, China.
Zhu XY; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.; Department of Intensive Care Unit, Sun Yat-Sen University Cancer Center, Guangzhou, China.
Zhang HL; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.
Feng GK; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China.
Liu GC; Department of Gynecological Oncology, Sun Yat-Sen University Cancer Center, Guangzhou, China.
Deng R; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China. .
Li JD; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China. .; Department of Gynecological Oncology, Sun Yat-Sen University Cancer Center, Guangzhou, China. .
Zhu XF; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-Sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, China. .; Pokaż więcej
Źródło:: Journal of translational medicine [J Transl Med] 2023 Sep 01; Vol. 21 (1), pp. 586. Date of Electronic Publication: 2023 Sep 01.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Ovarian Neoplasms*/drug therapy
DiGeorge Syndrome*
Female ; Animals ; Mice ; Humans ; Receptor, Platelet-Derived Growth Factor beta ; Prognosis ; Immunosuppressive Agents ; Immunotherapy ; Tumor Microenvironment

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Skocz do pozycji: 10.

Tytuł:: Intercellular cross-talk through lineage-specific gap junction of cancer-associated fibroblasts related to stromal fibrosis and prognosis.
Autorzy:: Cho SJ; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang, Republic of Korea.; Arontier Inc., Gangnam-Daero 241, Seocho-Gu, Seoul, Republic of Korea.
Oh JH; Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, 88 Olymphic-Ro 43-Gil, Seoul, 05505, South Korea.; Department of Medical Science, Asan Medical Institute of Convergence Science and Technology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Baek J; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang, Republic of Korea.; Arontier Inc., Gangnam-Daero 241, Seocho-Gu, Seoul, Republic of Korea.
Shin Y; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang, Republic of Korea.; Arontier Inc., Gangnam-Daero 241, Seocho-Gu, Seoul, Republic of Korea.
Kim W; Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, 88 Olymphic-Ro 43-Gil, Seoul, 05505, South Korea.; Department of Medical Science, Asan Medical Institute of Convergence Science and Technology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Ko J; Arontier Inc., Gangnam-Daero 241, Seocho-Gu, Seoul, Republic of Korea.
Jun E; Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Ulsan University College of Medicine and Asan Medical Center, Seoul, Korea.
Lee D; Department of Pathology, Ajou University School of Medicine, Suwon, South Korea.; Department of Biomedical Sciences, Ajou University Graduate School of Medicine, Suwon, South Korea.
Kim SH; Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Republic of Korea. .
Sohn I; Arontier Inc., Gangnam-Daero 241, Seocho-Gu, Seoul, Republic of Korea. .
Sung CO; Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, 88 Olymphic-Ro 43-Gil, Seoul, 05505, South Korea. .; Department of Medical Science, Asan Medical Institute of Convergence Science and Technology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Aug 30; Vol. 13 (1), pp. 14230. Date of Electronic Publication: 2023 Aug 30.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cancer-Associated Fibroblasts*
DiGeorge Syndrome*
Neoplasms*/genetics
Humans ; Endothelial Cells ; Gap Junctions ; Prognosis ; Cell Differentiation

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Skocz do pozycji: 11.

Tytuł:: Targeting Melanoma-Associated Fibroblasts (MAFs) with Activated γδ (Vδ2) T Cells: An In Vitro Cytotoxicity Model.
Autorzy:: Hajdara A; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.; Roska Tamás Doctoral School of Sciences and Technology, Faculty of Information Technology and Bionics, Pázmány Péter Catholic University, 1083 Budapest, Hungary.
Çakır U; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.
Érsek B; Department of Genetics, Cell and Immunobiology, Semmelweis University, 1089 Budapest, Hungary.
Silló P; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.
Széky B; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.; Roska Tamás Doctoral School of Sciences and Technology, Faculty of Information Technology and Bionics, Pázmány Péter Catholic University, 1083 Budapest, Hungary.
Barna G; Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary.
Faqi S; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.; Károly Rácz Doctoral School of Clinical Medicine, Semmelweis University, 1085 Budapest, Hungary.
Gyöngy M; Faculty of Information Technology and Bionics, Pázmány Péter Catholic University, 1083 Budapest, Hungary.
Kárpáti S; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.
Németh K; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.
Mayer B; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 17; Vol. 24 (16). Date of Electronic Publication: 2023 Aug 17.
Typ publikacji:: Journal Article
MeSH Terms:: Melanoma*
DiGeorge Syndrome*
Cancer-Associated Fibroblasts*
Humans ; Zoledronic Acid/pharmacology ; Fibroblasts ; Tumor Microenvironment

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Skocz do pozycji: 12.

Tytuł:: Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes.
Autorzy:: Parker DA; Department of Human Genetics, Emory University School of Medicine, Whitehead Biomedical Research Building 615 Michael Street Suite 301, Atlanta, GA, 30322, USA. .
Cubells JF; Department of Human Genetics; Emory Autism Center; Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, 1551 Shoup Court, Decatur, GA, 30033, USA.
Imes SL; Department of Human Genetics, Emory University School of Medicine, Whitehead Biomedical Research Building 615 Michael Street Suite 301, Atlanta, GA, 30322, USA.
Ruban GA; Department of Human Genetics, Emory University School of Medicine, Whitehead Biomedical Research Building 615 Michael Street Suite 301, Atlanta, GA, 30322, USA.
Henshey BT; Emory University, Whitehead Biomedical Research Building 615 Michael Street Suite 301, Atlanta, GA, 30322, USA.
Massa NM; Atlanta Veterans Administration Health Care System, 1670 Clairmont Road, Decatur, GA, 30033, USA.
Walker EF; Department of Psychology, Emory University, Psychology and Interdisciplinary Sciences Building Suite 487, 36 Eagle Row, Atlanta, GA, 30322, USA.
Duncan EJ; Atlanta Veterans Administration Health Care System, 1670 Clairmont Road, Decatur, GA, 30033, USA.; Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Brain Health Center, 12 Executive Park Dr, Atlanta, GA, 30329, USA.
Ousley OY; Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, 1551 Shoup Court, Decatur, GA, USA.; Pokaż więcej
Źródło:: BMC psychiatry [BMC Psychiatry] 2023 Jun 13; Vol. 23 (1), pp. 425. Date of Electronic Publication: 2023 Jun 13.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: DiGeorge Syndrome*/diagnosis
Psychotic Disorders*
Autistic Disorder*/diagnosis
Child Development Disorders, Pervasive*
Adolescent ; Adult ; Humans ; Child ; Young Adult ; Middle Aged ; Longitudinal Studies ; Chromosome Deletion

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Skocz do pozycji: 13.

Tytuł:: A case study of the utilization of clozapine treatment for treatment-resistant schizophrenia associated with 22q11.2 deletion syndrome.
Autorzy:: Tsurue A; Miyakonojo Shinsei Hospital, Miyakonojo, Japan.; Department of Psychiatry, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Funahashi H; Department of Psychiatry, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Tsurue K; Miyakonojo Shinsei Hospital, Miyakonojo, Japan.
Kawano M; Miyakonojo Shinsei Hospital, Miyakonojo, Japan.
Ishida Y; Department of Psychiatry, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Hirano Y; Department of Psychiatry, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.; Pokaż więcej
Źródło:: Neuropsychopharmacology reports [Neuropsychopharmacol Rep] 2023 Jun; Vol. 43 (2), pp. 272-276. Date of Electronic Publication: 2023 Mar 16.
Typ publikacji:: Case Reports
MeSH Terms:: DiGeorge Syndrome*/complications
DiGeorge Syndrome*/drug therapy
DiGeorge Syndrome*/genetics
Schizophrenia*/complications
Schizophrenia*/drug therapy
Schizophrenia*/genetics
Clozapine*/therapeutic use
Humans ; Female ; Adolescent ; Adult ; Schizophrenia, Treatment-Resistant ; Genetic Testing

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Skocz do pozycji: 14.

Tytuł:: Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.
Autorzy:: Szczawińska-Popłonyk A; Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Schwartzmann E; Medical Student Scientific Society, English Division, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Chmara Z; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Głukowska A; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Krysa T; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Majchrzycki M; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Olejnicki M; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Ostrowska P; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Babik J; Gynecology and Obstetrics with Pregnancy Pathology Unit, Franciszek Raszeja Municipal Hospital, 60-834 Poznań, Poland.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 May 05; Vol. 24 (9). Date of Electronic Publication: 2023 May 05.
Typ publikacji:: Journal Article; Review
MeSH Terms:: DiGeorge Syndrome*/genetics
Heart Defects, Congenital*/genetics
Humans ; Chromosome Deletion ; Molecular Biology ; Chromosomes

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Tytuł:: A CRISPR-engineered isogenic model of the 22q11.2 A-B syndromic deletion.
Autorzy:: Paranjape N; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.
Lin YT; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.; University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Flores-Ramirez Q; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Sarin V; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.
Johnson AB; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; San Francisco State University, San Francisco, CA, USA.
Chu J; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Paredes M; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA. .; Chan Zuckerberg Biohub-San Francisco, San Francisco, CA, USA. .
Wiita AP; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA. .; Chan Zuckerberg Biohub-San Francisco, San Francisco, CA, USA. .; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 May 11; Vol. 13 (1), pp. 7689. Date of Electronic Publication: 2023 May 11.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:: DiGeorge Syndrome*/genetics
Animals ; Mice ; Humans ; Chromosome Structures ; Genetic Heterogeneity ; Neurons ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics

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Skocz do pozycji: 16.

Tytuł:: Elevated regional cerebral blood flow in adults with 22q11.2 deletion syndrome.
Autorzy:: Pasternak M; Institute of Medical Science, University of Toronto, Toronto, Canada.
Shirzadi Z; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, MA, USA.
Mutsaerts HJMM; Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience, Amsterdam University Medical Center, Amsterdam, the Netherlands.
Boot E; Department of Psychiatry & Neuropsychology, Maastricht University, The Netherlands.; Advisium's Heeren Loo Zorggroep, Amersfoort, The Netherlands.; Dalglish Family 22q Clinic, Toronto General Hospital, and Toronto General Hospital Research Institute, University Health Network, Toronto, Canada.
Butcher NJ; Department of Psychiatry, University of Toronto, Toronto, Canada.; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.
MacIntosh BJ; Hurvitz Brain Sciences Program, Sunnybrook Research Institute, Toronto, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, Canada.
Heung T; Dalglish Family 22q Clinic, Toronto General Hospital, and Toronto General Hospital Research Institute, University Health Network, Toronto, Canada.; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Canada.; Campbell Family Research Institute Toronto, Toronto, Canada.
Bassett AS; Dalglish Family 22q Clinic, Toronto General Hospital, and Toronto General Hospital Research Institute, University Health Network, Toronto, Canada.; Department of Psychiatry, University of Toronto, Toronto, Canada.; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Canada.; Campbell Family Research Institute Toronto, Toronto, Canada.
Masellis M; Institute of Medical Science, University of Toronto, Toronto, Canada.; Hurvitz Brain Sciences Program, Sunnybrook Research Institute, Toronto, Canada.; Department of Medicine, Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Canada.; L.C. Campbell Cognitive Neurology Research Unit, Sunnybrook Health Sciences Centre, Toronto, Canada.; Pokaż więcej
Źródło:: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry [World J Biol Psychiatry] 2023 Mar; Vol. 24 (3), pp. 260-265. Date of Electronic Publication: 2022 Jul 15.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: DiGeorge Syndrome*/diagnostic imaging
DiGeorge Syndrome*/complications
DiGeorge Syndrome*/genetics
Psychotic Disorders*/diagnostic imaging
Psychotic Disorders*/complications
Schizophrenia*/diagnostic imaging
Schizophrenia*/genetics
Schizophrenia*/complications
Humans ; Adult ; Case-Control Studies ; Magnetic Resonance Imaging/methods ; Cerebrovascular Circulation

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Skocz do pozycji: 17.

Tytuł:: Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome.
Autorzy:: Tabata H; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Mori D; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.; Brain and Mind Research Center, Nagoya University, Nagoya 466-8550, Japan.
Matsuki T; Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Yoshizaki K; Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Asai M; Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Nakayama A; Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.; Department of Neurochemistry, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
Ozaki N; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.; Institute for Glyco-core Research (iGCORE), Nagoya University, Chikusa-ku, Nagoya 464-0814, Japan.
Nagata KI; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.; Department of Neurochemistry, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.; Pokaż więcej
Źródło:: Biomolecules [Biomolecules] 2023 Apr 27; Vol. 13 (5). Date of Electronic Publication: 2023 Apr 27.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: DiGeorge Syndrome*/genetics
DiGeorge Syndrome*/complications
DiGeorge Syndrome*/diagnosis
Schizophrenia*/pathology
Parkinson Disease*/pathology
Animals ; Mice ; Brain/pathology ; Prefrontal Cortex

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Skocz do pozycji: 18.

Tytuł:: Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.
Autorzy:: Menghi M; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy .
Micangeli G; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy .
Tarani F; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy .
Putotto C; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy .
Pirro F; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy .
Mariani A; Department of Internal, Anesthesiologic and Cardiovascular Clinical Sciences, Sapienza University of Rome, 00185 Rome, Italy.
Petrella C; Regional Reference Centre for Primary Immune Deficiencies, Azienda Ospedaliera Universitaria Policlinico Umberto I, 00185 Rome, Italy.
Pulvirenti F; Regional Reference Centre for Primary Immune Deficiencies, Azienda Ospedaliera Universitaria Policlinico Umberto I, 00185 Rome, Italy.
Cinicola B; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy .
Colloridi F; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy .
Tarani L; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy .
Fiore M; Regional Reference Centre for Primary Immune Deficiencies, Azienda Ospedaliera Universitaria Policlinico Umberto I, 00185 Rome, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 20; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 20.
Typ publikacji:: Journal Article; Review
MeSH Terms:: DiGeorge Syndrome*/genetics
MicroRNAs*
Humans ; Reactive Oxygen Species ; Neuroinflammatory Diseases ; Interleukin-6 ; RNA-Binding Proteins ; Oxidative Stress

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Skocz do pozycji: 19.

Tytuł:: Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.
Autorzy:: Chen X; Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Department of Nephrology, West China Hospital of Sichuan University, Chengdu, 610041, Sichuan, China.
Yang L; Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Li J; Department of Nephrology, West China Hospital of Sichuan University, Chengdu, 610041, Sichuan, China.
Tan H; Department of Nephrology, West China Hospital of Sichuan University, Chengdu, 610041, Sichuan, China. .; Pokaż więcej
Źródło:: BMC endocrine disorders [BMC Endocr Disord] 2022 Nov 12; Vol. 22 (1), pp. 278. Date of Electronic Publication: 2022 Nov 12.
Typ publikacji:: Review; Case Reports; Journal Article
MeSH Terms:: DiGeorge Syndrome*/complications
DiGeorge Syndrome*/diagnosis
DiGeorge Syndrome*/genetics
Hypoparathyroidism*/complications
Hypogonadism*/complications
Male ; Humans ; Follow-Up Studies ; Phenotype

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Tytuł:: Inhibition of Abl Kinase by Imatinib Can Rescue the Compromised Barrier Function of 22q11.2DS Patient-iPSC-Derived Blood-Brain Barriers.
Autorzy:: Li Y; Department of Biomedical Engineering, The City College of the City University of New York, New York, NY 10031, USA.
Sun Z; Department of Psychiatry, Columbia University, New York, NY 10032, USA.
Zhu H; Department of Psychiatry, Columbia University, New York, NY 10032, USA.
Sun Y; Department of Psychiatry, Columbia University, New York, NY 10032, USA.
Shteyman DB; Department of Biomedical Engineering, The City College of the City University of New York, New York, NY 10031, USA.
Markx S; Department of Psychiatry, Columbia University, New York, NY 10032, USA.
Leong KW; Department of Biomedical Engineering, Columbia University, New York, NY 10027, USA.
Xu B; Department of Psychiatry, Columbia University, New York, NY 10032, USA.
Fu BM; Department of Biomedical Engineering, The City College of the City University of New York, New York, NY 10031, USA.; Pokaż więcej
Źródło:: Cells [Cells] 2023 Jan 27; Vol. 12 (3). Date of Electronic Publication: 2023 Jan 27.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: DiGeorge Syndrome*
Induced Pluripotent Stem Cells*
Humans ; Imatinib Mesylate/pharmacology ; Imatinib Mesylate/therapeutic use ; Blood-Brain Barrier ; Endothelial Cells

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DiGeorge syndrome.