Results 291 to 300 of about 1,412,344 (374)

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients [PDF]

, 2002
Celene Grayson
openalex   +1 more source

Germline defects of familial haemophagocytic lymphohistiocytosis—Related genes may represent a predisposing factor for mature T‐ and natural killer‐cell lymphoma

British Journal of Haematology, EarlyView.
Summary Peripheral T‐cell lymphoma (PTCL) is relatively prevalent in Asian populations. Previous studies suggest that germline mutations in familial haemophagocytic lymphohistiocytosis (FHL)‐related genes may predispose individuals to lymphoproliferative disorders.
Chong Wei, Yan Zhang, Danqing Zhao, Wei Zhang, Daobin Zhou   +4 more
wiley   +1 more source

Novel homozygous nonsense mutation in glucagon-like peptide-2 receptor gene resulting in severe human illness. [PDF]

JPGN Rep
Jaramishian C, Kamal S, Martín MG, Minkoff NZ.   +3 more
europepmc   +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

Comparative transcriptome and mutation analyses of the pancreatic islets of a rat model of obese type 2 diabetes identifies a frequently distributed nonsense mutation in the lipocalin 2 gene. [PDF]

DNA Res
Yokoi N, Adachi N, Hirokoji T, Nakano K, Yoshihara M, Shigenaka S, Urakawa R, Taniguchi Y, Yoshida Y, Yokose S, Suyama M, Okamura T.   +11 more
europepmc   +1 more source

Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk

British Journal of Haematology, EarlyView.
Inherited thrombocytopenia (IT) caused by germline variants in RUNX1, ETV6 or ANKRD26 carries a high risk of developing haematological malignancy. This study examined the clinical, platelet and molecular characteristics of 66 patients with these conditions, who carried 24 distinct genetic variants in the corresponding genes.
Ana Marín‐Quílez, Ana Sánchez‐Fuentes, Ana Zamora‐Cánovas, Pedro Luis Gómez‐González, Lorena Diaz‐Ajenjo, Rocío Benito, Agustín Rodríguez‐Alén, Teresa Sevivas, Thais Murciano, Laura Murillo, Nora V. Butta, Nuria Revilla, Rosa Campos, Paola Escribano, Jordi Esteve, Nuria Fernández‐Mosteirin, Francisca Ferrer‐Marín, Laura Hernández, Jorge Huerta‐Aragonés, Antonio León, Mónica López‐Duarte, Eugenia López, Mónica Martín‐Salces, Meritxell Nomdedeu, Raquel Oña, Irene Peláez‐Pleguezuelos, Fernando Ramos, Elena Sebastián, Claudia Serrano, Cristina Sierra‐Aisa, Rosa Vidal‐Laso, José Ramón González‐Porras, María Luisa Lozano, José María Bastida, José Rivera   +34 more
wiley   +1 more source

Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy. [PDF]

Epilepsy Behav Rep
Mulkerrin G, Hennessy MJ.
europepmc   +1 more source

A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia [PDF]

, 2003
Consuelo González‐Manchón, Elena G. Arias‐Salgado, Nora Butta, Geneviève Martin, Ramón B. Rodrı́guez, Ismaı̈l Elalamy, Roberto Parrilla, Rémi Favier   +7 more
openalex   +1 more source

DysRegNet: Patient‐specific and confounder‐aware dysregulated network inference towards precision therapeutics

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Gene regulation is frequently altered in diseases in unique and patient‐specific ways. Hence, personalised strategies have been proposed to infer patient‐specific gene‐regulatory networks. However, existing methods do not scale well because they often require recomputing the entire network per sample.
Johannes Kersting, Olga Lazareva, Zakaria Louadi, Jan Baumbach, David B. Blumenthal, Markus List   +5 more
wiley   +1 more source

A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report. [PDF]

Medicine (Baltimore)
Li X, Ai L, Han CY, Cao YQ, Han JW.
europepmc   +1 more source