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Academic Journal

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.

  • Authors : Thomson KL; Oxford Genetics Laboratories, Churchill Hospital, Oxford, UK.; Jiang C

Subjects: Long QT Syndrome*/Long QT Syndrome*/Long QT Syndrome*/diagnosis ; Mutation, Missense*; Child

  • Source: HGG advances [HGG Adv] 2024 Apr 11; Vol. 5 (2), pp. 100270. Date of Electronic Publication: 2024 Jan 14.Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Enhancing missense variant pathogenicity prediction with protein language models using VariPred.

  • Authors : Lin W; Division of Biosciences, Institute of Structural and Molecular Biology, University College London, London, UK.; Wells J

Subjects: Proteins*/Proteins*/Proteins*/genetics ; Mutation, Missense*; Virulence

  • Source: Scientific reports [Sci Rep] 2024 Apr 07; Vol. 14 (1), pp. 8136. Date of Electronic Publication: 2024 Apr 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

  • Authors : Bhat S; Center for Interdisciplinary Research on Brain and Learning (CIRCA), Department of Physics and Department of Pharmacology and Physiology, Université de Montréal, Montréal, QC, Canada.; Rousseau J

Subjects: Epilepsy*/Epilepsy*/Epilepsy*/genetics ; Mutation, Missense* ; Shab Potassium Channels*/Shab Potassium Channels*/Shab Potassium Channels*/genetics

  • Source: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 761-777. Date of Electronic Publication: 2024 Mar 18.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.

  • Authors : Mascaro M; Department of Life Science, University of Trieste, Trieste 34127, Italy.; D'Ambrosio L

Subjects: Cleft Palate*/Cleft Palate*/Cleft Palate*/genetics ; Esophagus*/Esophagus*/Esophagus*/abnormalities ; Genetic Diseases, X-Linked* Opitz GBBB Syndrome, X-Linked

  • Source: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2024 Apr; Vol. 1870 (4), pp. 167126. Date of Electronic Publication: 2024 Mar 18.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel missense mutation c.797T>C (p.Met266Thr) gives rise to the rare B(A) phenotype in a Chinese family.

  • Authors : Shao LN; Dalian Blood Center, Dalian, Liaoning, China.; Yang YC

Subjects: Mutation, Missense* ; Glycosyltransferases*/Glycosyltransferases*/Glycosyltransferases*/chemistry ; Glycosyltransferases*/Glycosyltransferases*/Glycosyltransferases*/genetics

  • Source: Vox sanguinis [Vox Sang] 2024 Apr; Vol. 119 (4), pp. 383-387. Date of Electronic Publication: 2024 Jan 21.Publisher: Blackwell Science Country of Publication: England NLM ID: 0413606 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Structural implications of amyloidogenic rare variants Ser282Leu and Gln356Arg identified in h-BRCA1.

  • Authors : Mishra N; Advanced Center for Treatment, Research and Education in Cancer, Navi Mumbai, India.; Homi Bhabha National Institute, Training School Complex, Mumbai, India.

Subjects: Mutation, Missense* ; Amyloid*; DNA

  • Source: Proteins [Proteins] 2024 Apr; Vol. 92 (4), pp. 540-553. Date of Electronic Publication: 2023 Dec 01.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8700181 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

De novo variants in KCNJ3 are associated with early-onset epilepsy.

  • Authors : Li J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.

Subjects: Mutation, Missense*/Mutation, Missense*/Mutation, Missense*/genetics ; Epilepsy*/Epilepsy*/Epilepsy*/genetics; Humans

  • Source: Journal of medical genetics [J Med Genet] 2024 Mar 21; Vol. 61 (4), pp. 319-324. Date of Electronic Publication: 2024 Mar 21.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

A rare germline BMP15 missense mutation causes hereditary ovarian immature teratoma in human.

  • Authors : Liu Y; Department of Gynecology, Fourth Hospital, Hebei Medical University, Shijiazhuang 050011, China.; Fan H

Subjects: Mutation, Missense* ; Teratoma*/Teratoma*/Teratoma*/genetics; Humans

  • Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Mar 05; Vol. 121 (10), pp. e2310409121. Date of Electronic Publication: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Analysis of Hereditary FXII Deficiency Caused by Three Mutations Including a Novel Mutation

  • Authors : Ye L; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China; Liu M

Subjects: Mutation, Missense* ; Factor XII*/Factor XII*/Factor XII*/genetics; Humans

  • Source: Turkish journal of haematology : official journal of Turkish Society of Haematology [Turk J Haematol] 2024 Mar 01; Vol. 41 (1), pp. 66-68. Date of Electronic Publication: 2024 Feb Publisher: Galenos Yayinevi Country of Publication: Turkey NLM ID: 9606065 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Pathogenicity classification of missense mutations based on deep generative model.

  • Authors : Bai K; Shandong Jianzhu University, Jinan, 250101, PR China.; Yang L

Subjects: Mutation, Missense*; Humans ; Virulence

  • Source: Computers in biology and medicine [Comput Biol Med] 2024 Mar; Vol. 170, pp. 107980. Date of Electronic Publication: 2024 Jan 13.Publisher: Elsevier Country of Publication: United States NLM ID: 1250250 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  35,113 results for ""Mutation, Missense""