Results 261 to 270 of about 1,544,422 (378)

Missense Mutations in the Fas Gene Resulting in Autoimmune Lymphoproliferative Syndrome: A Molecular and Immunological Analysis [PDF]

, 1997
Alessandra Bettinardi, Duilio Brugnoni, Eugenia Quirós-Roldán, Alberto Malagoli, Stefania La Grutta, Antonio Correra, Luigi D. Notarangelo   +6 more
openalex   +1 more source

Early-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene. [PDF]

Endocrinol Diabetes Metab Case Rep
Fujii A, Nakabayashi H, Nagao Y, Akiyama M, Taguchi A, Yorimoto K, Hamada R, Saeki I, Yamamoto N, Takami T, Watanabe K, Mizukami Y, Ohta Y.   +12 more
europepmc   +1 more source

CRISPR Enabled Precision Oncology: From Gene Editing to Tumor Microenvironment Remodeling

Med Research, EarlyView.
CRISPR technology has progressed from a prokaryotic immune system to a diverse suite of editing platforms, including Cas nucleases, base and prime editors, and RNA‐targeting enzymes. These advances enable precise genomic and epigenomic interventions, high‐throughput functional screening, and immune engineering.
Kailai Li, Peixin Huang, Yue Qian, Anqi Lin, Jingjun He, Junyi Shen, Li Chen, Kai Miao, Jian Zhang   +8 more
wiley   +1 more source

Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C [PDF]

, 2017
Mikael Sundin, Michael Uhlin, Ahmed Gaballa, Kim Ramme, Antonios G.A. Kolios, Per Marits, Jakob Nilsson   +6 more
openalex   +1 more source

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review. [PDF]

Mol Genet Genomic Med
Yang W, Zhou J, Si N, Zhang X.
europepmc   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes.

Journal of the American Society of Nephrology, 2013
Y. M. Chen, Yuefang Zhou, Gloriosa Go, Joseph T Marmerstein, Y. Kikkawa, J. Miner   +5 more
semanticscholar   +1 more source

EPS2.06 Phenotypic manifestations of rare missense mutations

, 2018
S. Krasovsky, Y. Gorinova, E. Amelina, А. P. Polyakov, Н.В. Петрова, E. Kondratyeva, A. Voronkova, V. Nikonova, О. И. Симонова, Анна Степанова, T. Adyan, T. Ivaschenko, Yulia A. Nasykhova, M. V. Afanasyeva, А. В. Орлов, T. Gembitskaya, A.A. Pashkevich, V. Kovalev, M. Ignatyeva, T. Borisenko, N. Satsuk   +20 more
openalex   +1 more source

Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families. [PDF]

Ann Hematol
Amri Y, Fredj SH, Dabboubi R, Othmani R, Sahli C, Baccouche I, Ouali F, Messaoud T.   +7 more
europepmc   +1 more source