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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:

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Academic Journal

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene.

  • Authors : Ura H; Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan. Electronic address: .

Subjects: Mutation, Missense* ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Mediator Complex*/Mediator Complex*/Mediator Complex*/genetics

  • Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103388. Date of Electronic Publication: 2024 Mar 13.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium:

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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:

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Academic Journal

Population genomics reveals that a missense mutation in EDNRB2 contributes to white plumage color in pigeons.

  • Authors : Nannan M; Hebei Agricultural University, Baoding, Hebei 071001, China.; Wenjun W

Subjects: Columbidae*/Columbidae*/Columbidae*/genetics ; Mutation, Missense*; Animals

  • Source: Poultry science [Poult Sci] 2024 Jan; Vol. 103 (1), pp. 103225. Date of Electronic Publication: 2023 Oct 31.Publisher: Elsevier Country of Publication: England NLM ID: 0401150 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine.

  • Authors : Strøm TB; Unit for Cardiac and Cardiovascular Genetics, Oslo University Hospital, Oslo, Norway (Drs Strøm, Bogsrud and Leren). Electronic address: .; Asprusten E

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

  • Source: Journal of clinical lipidology [J Clin Lipidol] 2023 Nov-Dec; Vol. 17 (6), pp. 800-807. Date of Electronic Publication: 2023 Sep 09.Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.

  • Authors : Gatticchi L; Department of Medicine and Surgery, Physiology and Biochemistry Section, University of Perugia, 06132, Perugia, Italy. Electronic address: .; Dindo M

Subjects: Mutation, Missense* ; Hyperoxaluria, Primary*/Hyperoxaluria, Primary*/Hyperoxaluria, Primary*/genetics; Humans Primary hyperoxaluria type 1

  • Source: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2023 Feb 19; Vol. 645, pp. 118-123. Date of Electronic Publication: 2023 Jan 14.Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium:

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Report

A novel homozygous missense mutation in L-2-HGA gene: A case report.

  • Authors : Liu Y; Department of Neurology, Epilepsy Center, Lanzhou University Second Hospital, Lanzhou University, Lanzhou 730030, China. Electronic address: .; Wu Z

Subjects: Mutation, Missense* ; Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/diagnosis ; Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/genetics2-Hydroxyglutaricaciduria

  • Source: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2023 Feb; Vol. 225, pp. 107529. Date of Electronic Publication: 2022 Dec 02.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7502039 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A missense mutation in ISPD contributes to maintain muscle fiber stability.

  • Authors : Guo L; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, and Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Zhang S

Subjects: Mutation, Missense* ; Chickens*/Chickens*/Chickens*/genetics; Animals

  • Source: Poultry science [Poult Sci] 2022 Nov; Vol. 101 (11), pp. 102143. Date of Electronic Publication: 2022 Aug 31.Publisher: Elsevier Country of Publication: England NLM ID: 0401150 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.

  • Authors : Ehsani E; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Khamirani HJ

Subjects: Mutation, Missense* ; Spastic Paraplegia, Hereditary*; Homozygote Myofibrillar Myopathy

  • Source: European journal of medical genetics [Eur J Med Genet] 2022 Aug; Vol. 65 (8), pp. 104552. Date of Electronic Publication: 2022 Jun 22.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

PCA-MutPred: Prediction of Binding Free Energy Change Upon Missense Mutation in Protein-carbohydrate Complexes.

  • Authors : Siva Shanmugam NR; Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai 600036, India.; Veluraja K

Subjects: Amino Acids*/Amino Acids*/Amino Acids*/genetics ; Carbohydrates*/Carbohydrates*/Carbohydrates*/chemistry ; Mutation, Missense*

  • Source: Journal of molecular biology [J Mol Biol] 2022 Jun 15; Vol. 434 (11), pp. 167526. Date of Electronic Publication: 2022 Mar 05.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 2985088R Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  2,794 results for ""MISSENSE mutation""