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Academic Journal

Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study.

Subjects: Mutation, Missense* ; ZAP-70 Protein-Tyrosine Kinase*/ZAP-70 Protein-Tyrosine Kinase*/ZAP-70 Protein-Tyrosine Kinase*/genetics ; Genetic Predisposition to Disease*

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Aug 07; Vol. 17 (1), pp. 200. Date of Electronic Publication: 2024 Aug 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

The W792R HCM missense mutation in the C6 domain of cardiac myosin binding protein-C increases contractility in neonatal mouse myocardium.

  • Authors : Mertens J; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, United States of America; UW Cardiovascular Research Center, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, United States of America.

Subjects: Mutation, Missense* ; Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/genetics ; Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/metabolism

  • Source: Journal of molecular and cellular cardiology [J Mol Cell Cardiol] 2024 Oct; Vol. 195, pp. 14-23. Date of Electronic Publication: 2024 Jul 25.Publisher: Academic Press Country of Publication: England NLM ID: 0262322 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A missense mutation in the barley Xan-h gene encoding the Mg-chelatase subunit I leads to a viable pale green line with reduced daily transpiration rate.

  • Authors : Persello A; Department of Biosciences, University of Milan, 20133, Milan, Italy.; Department of Industrial Engineering, University of Padua, 35100, Padua, Italy.

Subjects: Hordeum*/Hordeum*/Hordeum*/genetics ; Hordeum*/Hordeum*/Hordeum*/physiology ; Hordeum*/Hordeum*/Hordeum*/enzymology

  • Source: Plant cell reports [Plant Cell Rep] 2024 Sep 29; Vol. 43 (10), pp. 246. Date of Electronic Publication: 2024 Sep 29.Publisher: Springer Country of Publication: Germany NLM ID: 9880970 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-203X

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Academic Journal

EMS-induced missense mutation in TaCHLI-7D affects leaf color and yield-related traits in wheat.

  • Authors : Wang Z; College of Horticulture, Yantai Key Laboratory of Molecular Breeding for High-Yield and Stress-Resistant Crops and Efficient Cultivation, Ludong University, Yantai, Shandong, China.; Xu H

Subjects: Triticum*/Triticum*/Triticum*/genetics ; Triticum*/Triticum*/Triticum*/growth & development ; Chlorophyll*/Chlorophyll*/Chlorophyll*/metabolism

  • Source: TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2024 Sep 15; Vol. 137 (10), pp. 223. Date of Electronic Publication: 2024 Sep 15.Publisher: Springer Country of Publication: Germany NLM ID: 0145600 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-2242

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Academic Journal

Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene.

  • Authors : Manhas A; Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA

Subjects: Ehlers-Danlos Syndrome*/Ehlers-Danlos Syndrome*/Ehlers-Danlos Syndrome*/genetics ; Ehlers-Danlos Syndrome*/Ehlers-Danlos Syndrome*/Ehlers-Danlos Syndrome*/pathology ; Collagen Type III*/Collagen Type III*/Collagen Type III*/genetics

  • Source: Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103485. Date of Electronic Publication: 2024 Jun 25.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.

  • Authors : Micaglio E; Arrhythmology Department, IRCCS Policlinico San Donato, Piazza E. Malan, San Donato Milanese, 20097 Milan, Italy.; Institute for Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, Piazza E. Malan, San Donato Milanese, 20097 Milan, Italy.

Subjects: Mutation, Missense* ; Hypertrophy, Left Ventricular*/Hypertrophy, Left Ventricular*/Hypertrophy, Left Ventricular*/genetics ; AMP-Activated Protein Kinases*/AMP-Activated Protein Kinases*/AMP-Activated Protein Kinases*/genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 23; Vol. 25 (17). Date of Electronic Publication: 2024 Aug 23.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

The de novo missense mutation F224S in GABRB2, identified in epileptic encephalopathy and developmental delay, impairs GABA A R function.

  • Authors : Li PP; Department of Geriatrics and Neurology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.; Zhou YY

Subjects: Receptors, GABA-A*/Receptors, GABA-A*/Receptors, GABA-A*/genetics ; Mutation, Missense* ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics

  • Source: Neuroscience [Neuroscience] 2024 Aug 16; Vol. 553, pp. 172-184. Date of Electronic Publication: 2024 Jul 02.Publisher: Elsevier Science Country of Publication: United States NLM ID: 7605074 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Missense mutation of ISL1 (E283D) is associated with the development of type 2 diabetes.

  • Authors : Zhang J; Shanghai Diabetes Institute, Department of Endocrinology & Metabolism, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; School of Medicine, Huanghuai University, Henan, China.

Subjects: Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics ; Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/metabolism ; LIM-Homeodomain Proteins*/LIM-Homeodomain Proteins*/LIM-Homeodomain Proteins*/genetics

  • Source: Diabetologia [Diabetologia] 2024 Aug; Vol. 67 (8), pp. 1698-1713. Date of Electronic Publication: 2024 May 31.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0006777 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The R436Q missense mutation in WWP1 disrupts autoinhibition of its E3 ubiquitin ligase activity, leading to self-degradation and loss of function.

  • Authors : Imamura M; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-Cho, Kodaira, Tokyo, 187-8502, Japan. .; Matsumoto H

Subjects: Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/metabolism ; Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/genetics ; Mutation, Missense*/Mutation, Missense*/Mutation, Missense*/genetics

  • Source: In vitro cellular & developmental biology. Animal [In Vitro Cell Dev Biol Anim] 2024 Aug; Vol. 60 (7), pp. 771-780. Date of Electronic Publication: 2024 Apr 01.Publisher: Springer Country of Publication: Germany NLM ID: 9418515 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1543-706X

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Academic Journal

The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.

  • Authors : Tan RL; Neurodevelopmental Genetics, Institute of Reconstructive Neurobiology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.; Sciandra F

Subjects: Dystroglycans*/Dystroglycans*/Dystroglycans*/metabolism ; Blood-Brain Barrier*/Blood-Brain Barrier*/Blood-Brain Barrier*/pathology ; Blood-Brain Barrier*/Blood-Brain Barrier*/Blood-Brain Barrier*/metabolism

  • Source: Disease models & mechanisms [Dis Model Mech] 2024 Jun 01; Vol. 17 (6). Date of Electronic Publication: 2024 Jun 18.Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet

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  • 1-10 of  189,626 results for ""MISSENSE mutation""