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Tytuł:
Dentin defects caused by a Dspp frameshift mutation are associated with the activation of autophagy.
Autorzy:
Liang T; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA. .
Smith CE; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.; Department of Anatomy & Cell Biology, Faculty of Medicine & Health Sciences, McGill University, Montreal, QC, Canada.
Hu Y; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
Zhang H; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
Zhang C; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
Xu Q; Department of Biomedical Sciences and Center for Craniofacial Research and Diagnosis, Texas A&M University College of Dentistry, 3302 Gaston Ave., Dallas, TX, 75246, USA.
Lu Y; Department of Biomedical Sciences and Center for Craniofacial Research and Diagnosis, Texas A&M University College of Dentistry, 3302 Gaston Ave., Dallas, TX, 75246, USA.
Qi L; Department of Molecular & Integrative Physiology, Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Medical School, 1000 Wall St., Ann Arbor, MI, 48105, USA.
Hu JC; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
Simmer JP; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
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Źródło:
Scientific reports [Sci Rep] 2023 Apr 19; Vol. 13 (1), pp. 6393. Date of Electronic Publication: 2023 Apr 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Frameshift Mutation*
Extracellular Matrix Proteins*/genetics
Mice ; Humans ; Animals ; Odontoblasts ; Mutation ; Phosphoproteins/genetics ; Sialoglycoproteins/genetics ; Dentin ; Autophagy/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with K ATP channel gain-of-function.
Autorzy:
Davis MJ; Department of Medical Pharmacology and Physiology, University of Missouri School of Medicine, Columbia MO 65212, USA.
Castorena-Gonzalez JA; Department of Pharmacology, Tulane University School of Medicine, New Orleans LA 70112, USA.
Kim HJ; Department of Medical Pharmacology and Physiology, University of Missouri School of Medicine, Columbia MO 65212, USA.
Li M; Department of Medical Pharmacology and Physiology, University of Missouri School of Medicine, Columbia MO 65212, USA.
Remedi M; Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, MO 63110, USA.; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
Nichols CG; Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, MO 63110, USA.; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.
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Źródło:
Function (Oxford, England) [Function (Oxf)] 2023 Apr 18; Vol. 4 (3), pp. zqad017. Date of Electronic Publication: 2023 Apr 18 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
KATP Channels*/genetics
Gain of Function Mutation*/genetics
Mice ; Animals ; Mutation ; Adenosine Triphosphate
SCR Disease Name:
Cantu syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Counterintuitive structural and functional effects due to naturally occurring mutations targeting the active site of the disease-associated NQO1 enzyme.
Autorzy:
Pacheco-García JL; Departamento de Química Física, Universidad de Granada, Spain.
Anoz-Carbonell E; Departamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Instituto de Biocomputación y Física de Sistemas Complejos (BIFI) (GBsC-CSIC Joint Unit), Universidad de Zaragoza, Spain.
Loginov DS; Institute of Microbiology - BioCeV, Academy of Sciences of the Czech Republic, Vestec, Czech Republic.
Kavan D; Institute of Microbiology - BioCeV, Academy of Sciences of the Czech Republic, Vestec, Czech Republic.
Salido E; Center for Rare Diseases (CIBERER), Hospital Universitario de Canarias, Universidad de la Laguna, Tenerife, Spain.
Man P; Institute of Microbiology - BioCeV, Academy of Sciences of the Czech Republic, Vestec, Czech Republic.
Medina M; Departamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Instituto de Biocomputación y Física de Sistemas Complejos (BIFI) (GBsC-CSIC Joint Unit), Universidad de Zaragoza, Spain.
Pey AL; Departamento de Química Física, Unidad de Excelencia en Química Aplicada a Biomedicina y Medioambiente e Instituto de Biotecnología, Universidad de Granada, Spain.
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Źródło:
The FEBS journal [FEBS J] 2023 Apr; Vol. 290 (7), pp. 1855-1873. Date of Electronic Publication: 2022 Nov 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Proteins*/chemistry
Mutation, Missense*
Humans ; Catalytic Domain/genetics ; Mutation ; Molecular Biology ; Computational Biology ; NAD(P)H Dehydrogenase (Quinone)/genetics ; NAD(P)H Dehydrogenase (Quinone)/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
When more is less: heritable gain-of-function chk1 mutations impair human fertility.
Autorzy:
Gillespie DA; Instituto de Tecnologías Biomédicas, Centro de Investigaciones Biomédicas de Canarias, Facultad de Medicina, Campus Ciencias de la Salud, Universidad de La Laguna, España.
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Źródło:
The FEBS journal [FEBS J] 2023 Apr; Vol. 290 (7), pp. 1719-1724. Date of Electronic Publication: 2022 Mar 08.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Gain of Function Mutation*
Protein Kinases*/genetics
Protein Kinases*/metabolism
Female ; Humans ; Checkpoint Kinase 1/genetics ; Checkpoint Kinase 1/metabolism ; DNA Damage ; Fertility/genetics ; G2 Phase Cell Cycle Checkpoints/genetics ; Mutation ; Phosphorylation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An innovative single-base extension method for synchronous detection of point mutations and MSI status in colorectal cancer.
Autorzy:
Liang L; Peking University First Hospital, Beijing, China.
Li X; Peking University First Hospital, Beijing, China.
Nong L; Peking University First Hospital, Beijing, China.
Cai W; Shanghai Tongshu Biotechnology Co., Ltd, Shanghai, China.
Zhang J; Peking University First Hospital, Beijing, China.
Liu P; Peking University First Hospital, Beijing, China.
Li T; Peking University First Hospital, Beijing, China.
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Źródło:
Cancer medicine [Cancer Med] 2023 Apr; Vol. 12 (7), pp. 8367-8377. Date of Electronic Publication: 2022 Dec 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Point Mutation*
Colorectal Neoplasms*/diagnosis
Colorectal Neoplasms*/genetics
Colorectal Neoplasms*/pathology
Humans ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Gain-of-Function p53N236S Mutation Drives the Bypassing of HRas -Induced Cellular Senescence via PGC-1α.
Autorzy:
Yang H; Laboratory of Molecular Genetics of Aging and Tumor, Medical School, Kunming University of Science and Technology, 727 Jing Ming Nan Road, Kunming 650500, China.
Zhang K; Laboratory of Molecular Genetics of Aging and Tumor, Medical School, Kunming University of Science and Technology, 727 Jing Ming Nan Road, Kunming 650500, China.
Guo Y; Laboratory of Molecular Genetics of Aging and Tumor, Medical School, Kunming University of Science and Technology, 727 Jing Ming Nan Road, Kunming 650500, China.
Guo X; Laboratory of Molecular Genetics of Aging and Tumor, Medical School, Kunming University of Science and Technology, 727 Jing Ming Nan Road, Kunming 650500, China.
Hou K; Laboratory of Molecular Genetics of Aging and Tumor, Medical School, Kunming University of Science and Technology, 727 Jing Ming Nan Road, Kunming 650500, China.
Hou J; Laboratory of Molecular Genetics of Aging and Tumor, Medical School, Kunming University of Science and Technology, 727 Jing Ming Nan Road, Kunming 650500, China.
Luo Y; Laboratory of Molecular Genetics of Aging and Tumor, Medical School, Kunming University of Science and Technology, 727 Jing Ming Nan Road, Kunming 650500, China.
Liu J; Laboratory of Molecular Genetics of Aging and Tumor, Medical School, Kunming University of Science and Technology, 727 Jing Ming Nan Road, Kunming 650500, China.
Jia S; Laboratory of Molecular Genetics of Aging and Tumor, Medical School, Kunming University of Science and Technology, 727 Jing Ming Nan Road, Kunming 650500, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 14; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 14.
Typ publikacji:
Journal Article
MeSH Terms:
Cellular Senescence*/genetics
Gain of Function Mutation*
Tumor Suppressor Protein p53*/genetics
Tumor Suppressor Protein p53*/metabolism
Animals ; Mice ; Fibroblasts/metabolism ; Mutation ; Proto-Oncogene Proteins p21(ras)/genetics ; Reactive Oxygen Species/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Gain-of-function mutations in Trim71 linked to congenital hydrocephalus.
Autorzy:
Chen Y; Guangzhou Laboratory, Guangzhou, China.
Yang X; Guangzhou Laboratory, Guangzhou, China.
Jing N; Guangzhou Laboratory, Guangzhou, China.; CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
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Źródło:
PLoS biology [PLoS Biol] 2023 Feb 09; Vol. 21 (2), pp. e3001993. Date of Electronic Publication: 2023 Feb 09 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Comment
MeSH Terms:
Gain of Function Mutation*
Hydrocephalus*/genetics
Animals ; Mice ; Cell Differentiation/genetics ; Mutation/genetics ; Wnt Signaling Pathway/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report.
Autorzy:
Poznyakova J; Laboratory of Genetic engineering, National Medical Research Center for Hematology Ministry of Health, Moscow, Russia.
Pshenichnikova O; Laboratory of Genetic engineering, National Medical Research Center for Hematology Ministry of Health, Moscow, Russia.
Surin V; Laboratory of Genetic engineering, National Medical Research Center for Hematology Ministry of Health, Moscow, Russia.
Klebanova E; Department of resuscitation and intensive care, National Medical Research Center of Hematology Ministry of Health, Moscow, Russia.
Galstyan G; Department of resuscitation and intensive care, National Medical Research Center of Hematology Ministry of Health, Moscow, Russia.
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Źródło:
Clinical and experimental pharmacology & physiology [Clin Exp Pharmacol Physiol] 2022 Nov; Vol. 49 (11), pp. 1150-1155. Date of Electronic Publication: 2022 Jul 22.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation, Missense*
Purpura, Thrombotic Thrombocytopenic*/diagnosis
Purpura, Thrombotic Thrombocytopenic*/genetics
ADAMTS13 Protein/genetics ; ADAMTS13 Protein/metabolism ; DNA Primers ; Humans ; Mutation ; Ribosomal Proteins ; Thrombospondins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.
Autorzy:
Luo S; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Hu Y; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Xiong P; Rehabilitation Department, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Tan L; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Zhao P; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Huang Y; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Xiao C; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Zhu H; Rehabilitation Department, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
He X; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Dec; Vol. 10 (12), pp. e2068. Date of Electronic Publication: 2022 Oct 17.
Typ publikacji:
Review; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
East Asian People*
Mutation, Missense*
Humans ; Female ; Syndrome ; Exome Sequencing ; INDEL Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The detection of mutation within goat cell division cycle 25 A and its effect on kidding number.
Autorzy:
Yang Y; Key Laboratory for Animal Genetics, Breeding, Reproduction and Molecular Design of Jiangsu Province, College of Animal Science and Technology, Yangzhou University, Yangzhou, Jiangsu, China.; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Sun X; Key Laboratory for Animal Genetics, Breeding, Reproduction and Molecular Design of Jiangsu Province, College of Animal Science and Technology, Yangzhou University, Yangzhou, Jiangsu, China.
Cui W; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Liu N; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Wang K; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Qu L; College of Life Sciences, Yulin University, Yulin, Shaanxi, PR China.; Shaanxi Provincial Engineering and Technology Research Center of Cashmere Goats, Life Science Research Center, Yulin University, Yulin, Shaanxi, China.
Pan C; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
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Źródło:
Animal biotechnology [Anim Biotechnol] 2022 Dec; Vol. 33 (7), pp. 1504-1509. Date of Electronic Publication: 2021 Apr 20.
Typ publikacji:
Journal Article
MeSH Terms:
Goats*/genetics
INDEL Mutation*
Pregnancy ; Female ; Animals ; Sheep ; Litter Size/genetics ; Mutation ; Cell Cycle
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.
Autorzy:
Mahdouani M; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.
Ben Ahmed S; Department of Oncology, Farhat Hached University Hospital, Sousse, Tunisia.; Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia.
Hmila F; Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia.; Department of General and Digestive Surgery, Farhat Hached University Hospital, Sousse, Tunisia.
Rais H; Medical Service, Salah Azaiez Institute, Tunis, Tunisia.
Ben Sghaier R; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.
Saad H; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.
Ben Said M; Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia.
Masmoudi S; Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia.
Hmida D; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.; Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia.
Brieger A; Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany.
Zeuzem S; Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany.
Saad A; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.; Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia.
Gribaa M; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.; Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia.
Plotz G; Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany.
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Źródło:
PloS one [PLoS One] 2022 Dec 01; Vol. 17 (12), pp. e0278283. Date of Electronic Publication: 2022 Dec 01 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Humans ; Virulence ; DNA Mismatch Repair ; Germ-Line Mutation ; MutL Protein Homolog 1/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.
Autorzy:
Wu S; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Wang X; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Dai S; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Zhang G; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Zhou J; Division of Ultrasound, West China Hospital of Sichuan University, Chengdu, 610041, People's Republic of China. .
Shen Y; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 12; Vol. 17 (1), pp. 413. Date of Electronic Publication: 2022 Nov 12.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*/genetics
Kidney*/pathology
Humans ; Exome Sequencing/methods ; Mutation ; RNA, Messenger ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characteristics of BRCA2 Mutated Prostate Cancer at Presentation.
Autorzy:
Han H; Department of Urology, Urological Science Institute, Yonsei University College of Medicine, Seoul 03722, Korea.
Park CK; Pathology Center, Seegene Medical Foundation, Seoul 04805, Korea.
Cho NH; Department of Pathology, Yonsei University College of Medicine, Seoul 03722, Korea.
Lee J; Department of Urology, Urological Science Institute, Yonsei University College of Medicine, Seoul 03722, Korea.
Jang WS; Department of Urology, Urological Science Institute, Yonsei University College of Medicine, Seoul 03722, Korea.
Ham WS; Department of Urology, Urological Science Institute, Yonsei University College of Medicine, Seoul 03722, Korea.
Choi YD; Department of Urology, Urological Science Institute, Yonsei University College of Medicine, Seoul 03722, Korea.
Cho KS; Department of Urology, Prostate Cancer Center, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06229, Korea.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Nov 03; Vol. 23 (21). Date of Electronic Publication: 2022 Nov 03.
Typ publikacji:
Journal Article
MeSH Terms:
Germ-Line Mutation*
Prostatic Neoplasms*/pathology
Male ; Humans ; Genes, BRCA2 ; BRCA2 Protein/genetics ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
IndelsRNAmute: predicting deleterious multiple point substitutions and indels mutations.
Autorzy:
Churkin A; Department of Software Engineering, Sami Shamoon College of Engineering, Beersheba, Israel. .
Ponty Y; Laboratoire d'Informatique de l'École Polytechique (LIX CNRS UMR 7161), Ecole Polytechnique, Palaiseau, France.
Barash D; Department of Computer Science, Ben-Gurion University, Beersheba, Israel.
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2022 Oct 14; Vol. 23 (Suppl 8), pp. 424. Date of Electronic Publication: 2022 Oct 14.
Typ publikacji:
Journal Article
MeSH Terms:
INDEL Mutation*
RNA*/chemistry
RNA*/genetics
Mutation ; Point Mutation ; Sequence Analysis, RNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Reversion is most likely under high mutation supply when compensatory mutations do not fully restore fitness costs.
Autorzy:
Pennings PS; Department of Biology, San Francisco State University, San Francisco, CA 94132, USA.
Ogbunugafor CB; Department of Ecology and Evolutionary Biology, Yale University,New Haven, CT 06520, USA.; The Santa Fe Institute, Santa Fe, New Mexico, 87501 USA.
Hershberg R; Rachel & Menachem Mendelovitch Evolutionary Processes of Mutation & Natural Selection Research Laboratory, Department of Genetics and Developmental Biology, The Ruth and Bruce Rappaport, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2022 Aug 25; Vol. 12 (9).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetics, Population*
Mutation Rate*
Adaptation, Physiological/genetics ; Evolution, Molecular ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Fluorescent reporters give new insights into antibiotics-induced nonsense and frameshift mistranslation.
Autorzy:
Hinnu M; Institute of Technology, University of Tartu, 50411, Tartu, Estonia. .
Putrinš M; Institute of Technology, University of Tartu, 50411, Tartu, Estonia.; Institute of Pharmacy, University of Tartu, 50411, Tartu, Estonia.
Kogermann K; Institute of Pharmacy, University of Tartu, 50411, Tartu, Estonia.
Kaldalu N; Institute of Technology, University of Tartu, 50411, Tartu, Estonia.
Tenson T; Institute of Technology, University of Tartu, 50411, Tartu, Estonia.
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Źródło:
Scientific reports [Sci Rep] 2024 Mar 22; Vol. 14 (1), pp. 6883. Date of Electronic Publication: 2024 Mar 22.
Typ publikacji:
Journal Article
MeSH Terms:
Anti-Bacterial Agents*/pharmacology
Frameshift Mutation*
Humans ; Azithromycin/pharmacology ; Amikacin ; Escherichia coli/genetics ; Codon, Terminator/genetics ; Protein Biosynthesis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.
Autorzy:
Ma X; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.; Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Zhao L; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Li L; Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Li X; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Ding C; Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Ma J; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2296. Date of Electronic Publication: 2024 Feb 28.
Typ publikacji:
Journal Article
MeSH Terms:
Frameshift Mutation*
Waardenburg Syndrome*/genetics
Waardenburg Syndrome*/pathology
Humans ; Female ; China ; Pedigree ; DNA ; SOXE Transcription Factors/genetics
SCR Disease Name:
Waardenburg syndrome type 2
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Autorzy:
Takahashi S; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Kojima T; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Otolaryngology, Head and Neck Surgery, National Hospital Organization Tochigi Medical Center, Tochigi 320-0057, Japan.
Wasano K; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Otolaryngology, Head and Neck Surgery, Tokai University School of Medicine, Isehara 259-1193, Japan.
Homma K; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; The Hugh Knowles Center for Clinical and Basic Science in Hearing and Its Disorders, Northwestern University, Evanston, IL 60208, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 27; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Deafness*
Humans ; Sulfate Transporters ; Proteins/metabolism ; Anions/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.
Autorzy:
Cheng SM; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Su YY; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Department of Internal Medicine, Kaohsiung Medical University Hospital and Center for Cancer Research, Kaohsiung Medical University, Kaohsiung, Taiwan.
Chiang NJ; Department of Oncology, Taipei Veterans General Hospital, Taipei, Taiwan.; School of Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Wang CJ; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Department of Surgery, National Cheng-Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chao YJ; Department of Surgery, National Cheng-Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Huang CJ; Department of Internal Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Tsai HJ; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Department of Internal Medicine, Kaohsiung Medical University Hospital and Center for Cancer Research, Kaohsiung Medical University, Kaohsiung, Taiwan.
Chen SH; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chang CY; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Tsai CR; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Li YJ; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Yen CJ; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chuang SC; Division of General and Digestive Surgery, Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.; Department of Surgery, Faculty of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Chang JS; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Shan YS; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan. .; Department of Surgery, National Cheng-Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. .
Hwang DY; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan. .; Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan. .; Center for Biomarkers and Biotech Drugs, Department of Biomedical Science and Environmental Biology, Kaohsiung Medical University, Kaohsiung, Taiwan. .; Precision Medicine Ph.D. Program, National Tsing Hua University, Hsinchu, Taiwan. .
Chen LT; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan. .; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. .; Department of Internal Medicine, Kaohsiung Medical University Hospital and Center for Cancer Research, Kaohsiung Medical University, Kaohsiung, Taiwan. .
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Źródło:
Journal of biomedical science [J Biomed Sci] 2024 Feb 13; Vol. 31 (1), pp. 21. Date of Electronic Publication: 2024 Feb 13.
Typ publikacji:
Multicenter Study; Journal Article
MeSH Terms:
Germ-Line Mutation*
Pancreatic Neoplasms*/drug therapy
Pancreatic Neoplasms*/genetics
Humans ; Taiwan ; Homologous Recombination ; Genes, BRCA2 ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Elucidating the Structural Impacts of Protein InDels.
Autorzy:
Jilani M; Department of Computer Science, University of Massachusetts Boston, Boston, MA 02125, USA.
Turcan A; Department of Computer Science, Western Washington University, Bellingham, WA 98225, USA.
Haspel N; Department of Computer Science, University of Massachusetts Boston, Boston, MA 02125, USA.
Jagodzinski F; Department of Computer Science, Western Washington University, Bellingham, WA 98225, USA.
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Źródło:
Biomolecules [Biomolecules] 2022 Oct 07; Vol. 12 (10). Date of Electronic Publication: 2022 Oct 07.
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Proteins*/genetics
Proteins*/chemistry
INDEL Mutation*
Amino Acid Substitution ; Mutation ; Amino Acids/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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