Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome†
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.815
Abstract: MEGDHEL is an autosomal recessive syndrome defined as 3‐MEthylGlutaconic aciduria (3‐MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh‐like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which… read more here.
Keywords: site mutation; novel splice; splice site; site ... See more keywords
β-Sheet Assembly Translates Conservative Single-Site Mutation into a Perturbation in Macroscopic Structure.
Sign Up to like & getrecommendations! Published in 2023 at "Nano letters"
DOI: 10.1021/acs.nanolett.3c00311
Abstract: Transferring structural information from amino acid sequence to macroscale assembly is a challenging approach for designing protein quaternary structure. However, the pathway by which the slight variations in sequence result in a global perturbation effect… read more here.
Keywords: structure; single site; site mutation; perturbation ... See more keywords
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1381977
Abstract: ABSTRACT Intoduction: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of autosomal dominant (AD) posterior nuclear cataract in a four… read more here.
Keywords: site mutation; posterior nuclear; splice site; nuclear cataract ... See more keywords
Structural insights into the effect of active-site mutation on the catalytic mechanism of carbonic anhydrase
Sign Up to like & getrecommendations! Published in 2020 at "IUCrJ"
DOI: 10.1107/s2052252520011008
Abstract: X-ray crystallography was used to elucidate the effect of a single-site mutation on the activity of a native metalloenzyme. The subtle structural modifications around the active site of the enzyme were correlated with the retarded… read more here.
Keywords: site; structural insights; site mutation; effect ... See more keywords
Novel hybrid genes and a splice site mutation encoding the Sta antigen among Japanese blood donors
Sign Up to like & getrecommendations! Published in 2020 at "Vox Sanguinis"
DOI: 10.1111/vox.12921
Abstract: The low‐incidence antigen Sta of the MNS system is usually associated with the GP(B‐A) hybrid molecule, which carries the ‘N’ antigen at the N terminus. The GP(A‐A) molecule with trypsin‐resistant M antigen has been found… read more here.
Keywords: site mutation; genes splice; hybrid genes; splice site ... See more keywords
Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genomics"
DOI: 10.1186/s12920-018-0359-5
Abstract: BackgroundBirt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within… read more here.
Keywords: site mutation; splice site; site; intron ... See more keywords
Examining the Effect of Kindlin-3 Binding Site Mutation on LFA-1-ICAM-1 Bonds by Force Measuring Optical Tweezers
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.792813
Abstract: Integrins in effector T cells are crucial for cell adhesion and play a central role in cell-mediated immunity. Leukocyte adhesion deficiency (LAD) type III, a genetic condition that can cause death in early childhood, highlights… read more here.
Keywords: adhesion; kindlin; binding site; kindlin binding ... See more keywords
A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph18137186
Abstract: A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure… read more here.
Keywords: novel; site mutation; adrenal insufficiency; splice site ... See more keywords
A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular medicine reports"
DOI: 10.3892/mmr.2017.6465
Abstract: Werner Syndrome (WS) is a rare, adult‑onset progeroid syndrome that is associated with multiple age‑associated complications and relatively short life expectancy. The characteristics of WS include a 'bird‑like' appearance, canities, cataracts and ulcerations around the… read more here.
Keywords: site mutation; consanguineous family; family; splice site ... See more keywords