Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-10 of  2,161 results for ""MISSENSE mutation""

Your Filters

Publication : international journal of molecular sciences
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
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

Record details

Read More Add to Saved list
×
Academic Journal

PON-Tm: A Sequence-Based Method for Prediction of Missense Mutation Effects on Protein Thermal Stability Changes.

  • Authors : Kuang J; Center for Systems Biology, School of Basic Medical Sciences, Suzhou Medical College of Soochow University, Suzhou 215123, China.; School of Computer Science & Technology, Soochow University, Suzhou 215000, China.

Subjects: Protein Stability* ; Mutation, Missense* ; Proteins*/Proteins*/Proteins*/chemistry

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 31; Vol. 25 (15). Date of Electronic Publication: 2024 Jul 31.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

Record details

Read More Add to Saved list
×
Academic Journal

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis.

  • Authors : Bernard E; Lyon ALS Reference Center, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron, France.; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon I, 8 Avenue Rockefeller, CEDEX 08, 69373 Lyon, France.

Subjects: Kinesins*/Kinesins*/Kinesins*/genetics ; Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics ; Mutation, Missense*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 26; Vol. 25 (15). Date of Electronic Publication: 2024 Jul 26.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

Record details

Read More Add to Saved list
×
Academic Journal

Gene Mapping and Identification of a Missense Mutation in One Copy of VRN-A1 Affects Heading Date Variation in Wheat.

  • Authors : Xue Q; College of Agriculture, Hubei Center for Collaborative Innovation of Grain Industry, Yangtze University, Jingzhou 434025, China.; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.

Subjects: Triticum*/Triticum*/Triticum*/genetics ; Mutation, Missense*; Plant Breeding

  • Source: International journal of molecular sciences [Int J Mol Sci] 2023 Mar 05; Vol. 24 (5). Date of Electronic Publication: 2023 Mar 05.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

Record details

Read More Add to Saved list
×
Report

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.

  • Authors : Mencarelli A; Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy. .; Prontera P

Subjects: Hamartoma/Hamartoma/Hamartoma/*genetics ; Intracellular Signaling Peptides and Proteins/Intracellular Signaling Peptides and Proteins/Intracellular Signaling Peptides and Proteins/*genetics ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2018 Oct 16; Vol. 19 (10). Date of Electronic Publication: 2018 Oct 16.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

Record details

Read More Add to Saved list
×
Academic Journal

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

  • Authors : Malekkou A; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus. .; Cyprus School of Molecular Medicine, Nicosia 1683, Cyprus. .

Subjects: Mutation, Missense*; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*metabolism Spastic Ataxia

  • Source: International journal of molecular sciences [Int J Mol Sci] 2018 Oct 10; Vol. 19 (10). Date of Electronic Publication: 2018 Oct 10.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

Record details

Read More Add to Saved list
×
Academic Journal

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly.

Subjects: *GENETIC variation; *MISSENSE mutation; *PEOPLE with epilepsy

  • Source: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9676. 8p.

Record details

Read More Add to Saved list
×
Academic Journal

Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?

  • Authors : Girardelli M; Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Via dell'Istria 65/1, Trieste 34137, Italy. .; Vuch J

Subjects: Mutation, Missense*; Colitis, Ulcerative/Colitis, Ulcerative/Colitis, Ulcerative/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2014 Mar 03; Vol. 15 (3), pp. 3834-41. Date of Electronic Publication: 2014 Mar 03.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

Record details

Read More Add to Saved list
×
Academic Journal

Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.

Subjects: *MOLECULAR pathology; *MISSENSE mutation; *HETEROZYGOSITY

  • Source: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 5, p2762. 10p.

Record details

Read More Add to Saved list
×
Academic Journal

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Subjects: *MISSENSE mutation; *ALBINISM; *HEREDITY

  • Source: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 16, p8657. 22p.

Record details

Read More Add to Saved list
×
  • 1-10 of  2,161 results for ""MISSENSE mutation""