Výsledky vyhledávání - "loss of function mutation"

Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks.

Autoři: Blair DR Risch N

Zdroj: American journal of human genetics [Am J Hum Genet] 2025 Dec 04; Vol. 112 (12), pp. 2922-2942. Date of Electronic Publication: 2025 Nov 24.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Výrazy ze slovníku MeSH: Alleles* , Loss of Function Mutation*/genetics , Genetic Diseases, Inborn*/genetics , Genetic Predisposition to Disease*, Humans ; Biological Specimen Banks ; Penetrance ; Haploinsufficiency/genetics ; Heterozygote ; Phenotype ; Electronic Health Records

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Autoři: Kröll-Hermi A Stoetzel C Etard C a další

Zdroj: American journal of human genetics [Am J Hum Genet] 2025 Dec 04; Vol. 112 (12), pp. 2943-2960. Date of Electronic Publication: 2025 Nov 18.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Výrazy ze slovníku MeSH: Protein-Arginine N-Methyltransferases*/genetics , Protein-Arginine N-Methyltransferases*/chemistry , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Loss of Function Mutation*/genetics, Humans ; Animals ; Female ; Male ; Zebrafish/genetics ; Alleles ; Child ; Pedigree ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Child, Preschool ; Syndrome

A new KLF13 loss-of-function mutation responsible for sporadic dilated cardiomyopathy.

Autoři: Tang X Wang Y Yang CX a další

Zdroj: Molecular biology reports [Mol Biol Rep] 2025 Nov 07; Vol. 53 (1), pp. 62. Date of Electronic Publication: 2025 Nov 07.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

Výrazy ze slovníku MeSH: Cardiomyopathy, Dilated*/genetics , Loss of Function Mutation*/genetics , Repressor Proteins*/genetics , Repressor Proteins*/metabolism, Humans ; Female ; Male ; Adult ; Middle Aged ; Genetic Predisposition to Disease ; Myosin Heavy Chains/genetics ; Mutation ; Case-Control Studies ; Cardiac Myosins/genetics

A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASIL.

Autoři: Ouskri A Ihlal H En-Nasery Z a další

Zdroj: Neurogenetics [Neurogenetics] 2025 Nov 06; Vol. 26 (1), pp. 80. Date of Electronic Publication: 2025 Nov 06.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Výrazy ze slovníku MeSH: Receptor, Notch3*/genetics , CADASIL*/genetics , Loss of Function Mutation*, Humans ; Female ; Child ; Homozygote ; Morocco ; Pedigree ; Consanguinity ; Exome Sequencing

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Autoři: Erkut E Somerville C Schwartz MLB a další

Zdroj: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2625-2642. Date of Electronic Publication: 2025 Sep 30.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Výrazy ze slovníku MeSH: Eukaryotic Initiation Factor-3*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Craniofacial Abnormalities*/genetics , Craniofacial Abnormalities*/pathology , Heart Defects, Congenital*/genetics , Loss of Function Mutation*/genetics, Humans ; Animals ; Zebrafish/genetics ; Male ; Female ; Child ; Child, Preschool ; Infant ; Phenotype

Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant.

Autoři: Maino A Chevallier M Giovannini D a další

Zdroj: Journal of neuromuscular diseases [J Neuromuscul Dis] 2025 Nov; Vol. 12 (6), pp. 849-853. Date of Electronic Publication: 2025 Jun 25.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Výrazy ze slovníku MeSH: Muscle Hypotonia*/genetics , Loss of Function Mutation*, Humans ; Female ; Infant, Newborn ; Male ; Homozygote ; Pedigree

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia.

Autoři: Maroofian R Spoto G Moualek D a další

Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2025 Nov; Vol. 40 (11), pp. 2531-2537. Date of Electronic Publication: 2025 Aug 04.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ankyrins*/genetics , Cerebellar Ataxia*/genetics , Neurodevelopmental Disorders*/genetics , Loss of Function Mutation*/genetics, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Pedigree ; Developmental Disabilities/genetics ; Cerebellum/diagnostic imaging ; Cerebellum/pathology ; Phenotype

Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus.

Autoři: Wang Q Zhu H Sun X a další

Zdroj: Nature [Nature] 2025 Nov; Vol. 647 (8089), pp. 498-505. Date of Electronic Publication: 2025 Sep 10.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Výrazy ze slovníku MeSH: Lupus Erythematosus, Systemic*/genetics , Lupus Erythematosus, Systemic*/immunology , Lupus Erythematosus, Systemic*/drug therapy , Lupus Erythematosus, Systemic*/enzymology , Lupus Erythematosus, Systemic*/pathology , Loss of Function Mutation*/genetics , Phospholipase D*/genetics , Phospholipase D*/deficiency , Phospholipase D*/metabolism, Humans ; Animals ; Mice ; Female ; Azetidines/pharmacology ; Azetidines/therapeutic use ; Male ; Purines/pharmacology ; Purines/therapeutic use ; Sulfonamides/pharmacology ; Sulfonamides/therapeutic use ; Dendritic Cells/immunology ; Dendritic Cells/metabolism ; Pyrazoles/pharmacology ; Pyrazoles/therapeutic use ; Toll-Like Receptor 7/metabolism ; Toll-Like Receptor 7/immunology ; Signal Transduction ; Toll-Like Receptor 9/metabolism ; Toll-Like Receptor 9/immunology ; Adult ; Interferon Type I/immunology ; Interferon Type I/metabolism ; Autoimmunity/genetics

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.

Autoři: Hussain HMJ Meng W Li Y a další

Zdroj: Journal of medical genetics [J Med Genet] 2025 Oct 20; Vol. 62 (11), pp. 693-699. Date of Electronic Publication: 2025 Oct 20.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Výrazy ze slovníku MeSH: Retinal Degeneration*/genetics , Retinal Degeneration*/pathology , Loss of Function Mutation*/genetics , Genetic Predisposition to Disease*, Humans ; Male ; Female ; Middle Aged ; Exome Sequencing ; Pedigree ; Adult ; Alleles ; Tomography, Optical Coherence ; Electroretinography ; Phenotype ; Whole Genome Sequencing

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Autoři: Dominik N Efthymiou S Record CJ a další

Zdroj: The Journal of clinical investigation [J Clin Invest] 2025 Oct 14; Vol. 135 (23). Date of Electronic Publication: 2025 Oct 14 (Print Publication: 2025).

Způsob vydávání: Journal Article

Informace o časopise: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Výrazy ze slovníku MeSH: GTPase-Activating Proteins*/genetics , GTPase-Activating Proteins*/metabolism , Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/metabolism , Charcot-Marie-Tooth Disease*/pathology , Alleles* , Loss of Function Mutation*, Humans ; Animals ; Zebrafish/genetics ; Drosophila melanogaster/genetics ; Female ; Male ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism ; rhoA GTP-Binding Protein/genetics ; rhoA GTP-Binding Protein/metabolism

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Autoři: Zhou Y Jiang T Gao J a další

Zdroj: Science advances [Sci Adv] 2025 Oct 10; Vol. 11 (41), pp. eadt0836. Date of Electronic Publication: 2025 Oct 10.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Výrazy ze slovníku MeSH: Tetralogy of Fallot*/genetics , Tetralogy of Fallot*/pathology , Tetralogy of Fallot*/metabolism , Cilia*/genetics , Cilia*/metabolism , Genetic Predisposition to Disease* , Loss of Function Mutation*, Humans ; Animals ; Mice ; Female ; Male ; Homeobox Protein Nkx-2.5/genetics ; Homeobox Protein Nkx-2.5/metabolism ; GATA4 Transcription Factor/genetics ; GATA4 Transcription Factor/metabolism ; Disease Models, Animal ; High-Throughput Nucleotide Sequencing ; Myocytes, Cardiac/metabolism ; Signal Transduction ; Phenotype ; Hedgehog Proteins/metabolism

Epistasis at the cell surface: what is the role of Erg3 loss-of-function in acquired echinocandin resistance?

Autoři: Carolus H Díaz-García J Biriukov V a další

Zdroj: MBio [mBio] 2025 Oct 08; Vol. 16 (10), pp. e0141925. Date of Electronic Publication: 2025 Sep 09.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: American Society for Microbiology Country of Publication: United States NLM ID: 101519231 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2150-7511 (Electronic) NLM ISO Abbreviation: mBio Subsets: MEDLINE

Výrazy ze slovníku MeSH: Echinocandins*/pharmacology , Drug Resistance, Fungal*/genetics , Antifungal Agents*/pharmacology , Glucosyltransferases*/genetics , Glucosyltransferases*/metabolism , Fungal Proteins*/genetics , Fungal Proteins*/metabolism , Epistasis, Genetic* , Candida glabrata*/genetics , Candida glabrata*/drug effects , Candida glabrata*/enzymology , Loss of Function Mutation*, Humans ; Candidiasis/microbiology ; Candidiasis/drug therapy ; Cell Membrane

Effects of a novel loss-of-function waxy endosperm allele on sorghum seed development and grain quality.

Autoři: Dhiman P Soumen S Nigam D a další

Zdroj: G3 (Bethesda, Md.) [G3 (Bethesda)] 2025 Oct 08; Vol. 15 (10).

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Oxford University Press Country of Publication: England NLM ID: 101566598 Publication Model: Print Cited Medium: Internet ISSN: 2160-1836 (Electronic) Linking ISSN: 21601836 NLM ISO Abbreviation: G3 (Bethesda) Subsets: MEDLINE

Výrazy ze slovníku MeSH: Sorghum*/genetics , Sorghum*/metabolism , Sorghum*/growth & development , Endosperm*/genetics , Endosperm*/metabolism , Alleles* , Plant Proteins*/genetics , Plant Proteins*/metabolism , Seeds*/genetics , Seeds*/growth & development , Seeds*/metabolism , Edible Grain*/genetics , Edible Grain*/metabolism , Loss of Function Mutation*, Gene Expression Regulation, Plant ; Starch/metabolism ; Phenotype ; Amylose/metabolism ; Starch Synthase/genetics

Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function.

Autoři: Lu W Li S Chen S a další

Zdroj: Human molecular genetics [Hum Mol Genet] 2025 Oct 05; Vol. 34 (20), pp. 1705-1717.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Výrazy ze slovníku MeSH: Serine Endopeptidases*/genetics , Serine Endopeptidases*/metabolism , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Membrane Proteins*/genetics , Membrane Proteins*/metabolism , Synapses*/pathology , Synapses*/metabolism , Synapses*/genetics , Loss of Function Mutation*, Animals ; Humans ; Mice ; Mice, Knockout ; Female ; Male ; Pedigree

Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.

Autoři: Zhao G Ma J Zhang Y a další

Zdroj: Human genetics [Hum Genet] 2025 Oct; Vol. 144 (9-10), pp. 971-982. Date of Electronic Publication: 2025 Aug 14.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Výrazy ze slovníku MeSH: Asthenozoospermia*/genetics , Asthenozoospermia*/pathology , Infertility, Male*/genetics , Infertility, Male*/pathology , Loss of Function Mutation*, Adult ; Humans ; Male ; Alleles ; Axonemal Dyneins/genetics ; Dyneins/genetics ; Exome Sequencing ; Sperm Tail/pathology ; Sperm Tail/metabolism ; Spermatozoa/pathology ; Spermatozoa/metabolism

Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.

Autoři: Zhou C Tang F Wang X a další

Zdroj: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2025 Oct; Vol. 46 (10), pp. 5341-5350. Date of Electronic Publication: 2025 Aug 13.

Způsob vydávání: Journal Article; Review; Case Reports

Informace o časopise: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Výrazy ze slovníku MeSH: Periventricular Nodular Heterotopia*/genetics , Periventricular Nodular Heterotopia*/diagnostic imaging , Microtubule-Associated Proteins*/genetics , Loss of Function Mutation*/genetics, Humans ; Female ; Male ; Genetic Association Studies ; Pedigree ; Adult ; Exome Sequencing

Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants.

Autoři: Thompson T Gurfinkel D Silveira L a další

Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64147. Date of Electronic Publication: 2025 Jun 14.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Výrazy ze slovníku MeSH: Loss of Function Mutation* , Methyl-CpG-Binding Protein 2*/genetics , Rett Syndrome*/diagnosis , Rett Syndrome*/genetics, Humans ; Male ; Bias ; Delayed Diagnosis ; Genetic Testing ; Surveys and Questionnaires ; Caregivers/psychology ; Infant ; Child, Preschool ; Child

Loss-of-function mutations in ASIP and MC1R are associated with coat colour variation in marsupials.

Autoři: Sauermann R Fancourt B Faulkner T a další

Zdroj: Biology letters [Biol Lett] 2025 Oct; Vol. 21 (10), pp. 20250302. Date of Electronic Publication: 2025 Oct 22.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: The Royal Society Country of Publication: England NLM ID: 101247722 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-957X (Electronic) Linking ISSN: 17449561 NLM ISO Abbreviation: Biol Lett Subsets: MEDLINE

Výrazy ze slovníku MeSH: Receptor, Melanocortin, Type 1*/genetics , Receptor, Melanocortin, Type 1*/metabolism , Agouti Signaling Protein*/genetics , Agouti Signaling Protein*/metabolism , Hair Color*/genetics , Marsupialia*/genetics , Loss of Function Mutation*, Animals

Effects of the PCSK9 C378W Mutation on PCSK9 Levels and Lipid Profiles in Taiwanese Individuals: A Loss-of-Function Mutation with Potential Cardiovascular Benefits.

Autoři: Wu S Hsu LA Yeh KH a další

Zdroj: Genes [Genes (Basel)] 2025 Sep 19; Vol. 16 (9). Date of Electronic Publication: 2025 Sep 19.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Výrazy ze slovníku MeSH: Proprotein Convertase 9*/genetics , Proprotein Convertase 9*/blood , Loss of Function Mutation* , Cardiovascular Diseases*/genetics , Cardiovascular Diseases*/blood , Lipids*/blood, Humans ; Female ; Male ; Taiwan/epidemiology ; Middle Aged ; Cholesterol, LDL/blood ; Cholesterol, LDL/genetics ; Aged ; Lipid Metabolism/genetics ; Adult ; Mutation

[Clinical features and immunotherapy for children with loss-of-function/gain-of-function mutations in the STAT gene: an analysis of 10 cases].

Autoři: Li HW Wang YH Wu SZ a další

Zdroj: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2025 Aug 15; Vol. 27 (8), pp. 951-958.

Způsob vydávání: English Abstract; Journal Article

Informace o časopise: Publisher: Zhongguo dang dai er ke za zhi she Country of Publication: China NLM ID: 100909956 Publication Model: Print Cited Medium: Print ISSN: 1008-8830 (Print) Linking ISSN: 10088830 NLM ISO Abbreviation: Zhongguo Dang Dai Er Ke Za Zhi Subsets: MEDLINE

Výrazy ze slovníku MeSH: Immunotherapy* , Gain of Function Mutation* , Loss of Function Mutation* , STAT Transcription Factors*/genetics, Humans ; Male ; Female ; Child, Preschool ; Child ; Retrospective Studies ; Infant