Results 151 to 160 of about 241,061 (333)

A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins. [PDF]

, 1993
Kazuo Takahashi, Xian‐Cheng Jiang, Naohiko Sakai, Shizuya Yamashita, Ken‐ichi Hirano, Hideaki Bujo, Hiroyuki Yamazaki, Jun Kusunoki, Tomohiro Miura, Paul Kussie   +9 more
openalex   +1 more source

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort – Implications for NOTCH3 Variant‐Specific Disease Prediction

Annals of Neurology, EarlyView.
Objective Vascular NOTCH3 protein ectodomain aggregation is a pathological hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease typically caused by cysteine‐altering variants in NOTCH3.
Minne N. Cerfontaine, Gido Gravesteijn, Remco J. Hack, Kyra L. Dijkstra, Mar Rodríguez‐Girondo, Benno Gesierich, Marie‐Noëlle W. Witjes‐Ané, Remco van Doorn, Marco Duering, Julie W. Rutten, Saskia A. J. Lesnik Oberstein   +10 more
wiley   +1 more source

The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. [PDF]

, 1991
Kathleen A. Cooney, William C. Nichols, M E Bruck, Wadie F. Bahou, Amy D. Shapiro, Ejw Bowie, H R Gralnick, David Ginsburg   +7 more
openalex   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme. [PDF]

, 1994
C H Chen, Kenneth H. Astrin, G Lee, Karl E. Anderson, Robert J. Desnick   +4 more
openalex   +1 more source

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

Annals of Neurology, EarlyView.
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell‐Luria, Grace E. VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H. Seaver, Jennifer A. Sullivan, Vandana Shashi, Fowzan S. Alkuraya, Alexis F. Poss, J. Edward Spence, Rhonda E. Schnur, Ian C. Forster, Chaseley E. Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E. Verbeek, Koen L. Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A. Reid, Katherine B. Howell, Alban Ziegler, Christian Legros   +52 more
wiley   +1 more source

Human glucokinase gene: Isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus [PDF]

, 1992

openalex   +1 more source

Emergence of Staphylococcus aureus Resistance to Antimicrobial Peptides Nisin, NZ2114 and Bacitracin Involves Multiple Phenotypic Changes

Animal Research and One Health, EarlyView.
The AMP‐induced mutant Staphylococcus aureus strain nzR showed increased resistance, five gene mutations, and decreased surface anion levels. AMPs affect the NDH‐2 protein encoded by ndh gene inhibiting the growth of S. aureus. The deletion of the ndh gene promotes the development of AMPs resistance.
Lingyu Xiao, Xingyuan Ma, Ping Tian, Lianbin Li, Zafir Muhammad, Xiaokun Wang, Xuemei Xue, Jinhe Xiao, Liangjun Zheng, F. A. El‐Gohary, Xin Zhao, Junning Pu, Huping Xue   +12 more
wiley   +1 more source

Creating A Course Based Undergraduate Research Experience (CURE) Genetics Yeast Laboratory Course at Xavier University of Louisiana

Biochemistry and Molecular Biology Education, EarlyView.
ABSTRACT Course‐based undergraduate research experiences (CUREs) are important for providing undergraduates with authentic research experiences. At Xavier University of Louisiana, a Genetics Laboratory CURE course was developed and implemented. The goals of developing this Genetics CURE laboratory course were: (1) to provide a large number of students ...
Joanna E. Haye‐Bertolozzi, Cecily B. DeFreece, Christopher Bolden, Kalila Daveron, Hector Biliran   +4 more
wiley   +1 more source

A Missense Mutation in the Gene Results in Total Absence of α3-Fucosylation of Human α1-Acid Glycoprotein [PDF]

, 1996
Els C.M. Brinkman-Van der Linden, Rosella Mollicone, Rafaël Oriol, Göran Larson, Dirk H. van den Eijnden, Willem van Dijk   +5 more
openalex   +1 more source