Results 231 to 240 of about 141,024 (299)

A Novel Nonsense Mutation of the ATP2C1 Gene in an 18-Year-Old-Female with Papular Acantholytic Dyskeratosis of the Anogenital Area. [PDF]

Clin Cosmet Investig Dermatol
Huang S, Alhadidi MAA, Feng N, Wan C.
europepmc   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1286-1305, June 2026.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 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

Ivermectin Toxicity in Humans and Animals: Clinical Spectrum, Mechanisms, and Management

Journal of Applied Toxicology, Volume 46, Issue 6, Page 1856-1870, June 2026.
ABSTRACT Ivermectin is a widely used macrocyclic lactone with established efficacy against a broad range of parasitic infections in humans and animals and a long‐standing reputation for clinical safety. However, increasing evidence indicates that ivermectin can produce clinically relevant toxicity under specific conditions, particularly involving the ...
Serkan Yilmaz, Bayram Göktaş, İlker Ateş, Mustafa Çelik   +3 more
wiley   +1 more source

A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa. [PDF]

J Med Life
Ayub M, Xiong X, Anwer S, Altmüller J, Naeem M, Hassan N, Khan K, Motameny S, Khaliq S, Rehman FU, Uddin SA, Wali A, Betz R, Basit S.   +13 more
europepmc   +1 more source

Limitations of the refolding pipeline for de novo protein design

Protein Science, Volume 35, Issue 6, June 2026.
Abstract With the emergence of powerful deep learning‐based tools, computational protein design has become a widely accessible technique. Nowadays, it is possible to perform both sequence and structure design in a matter of minutes, making the technology attractive to the broader scientific community. In protein design campaigns, one of the most common
Kerlen T. Korbeld, Vsevolod Viliuga, Maximilian J. L. J. Fürst   +2 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

Biallelic Nonsense Variants in NEFL May Cause a Non‐Length‐Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies

Journal of the Peripheral Nervous System, Volume 31, Issue 2, June 2026.
ABSTRACT Background and Aims Pathogenic variants in NEFL, the gene that encodes the light polypeptide subunit of neurofilaments, are an uncommon cause of autosomal recessive Charcot‐Marie‐Tooth (CMT) disease. In this study, we describe the clinical and electrophysiological features of two families with early‐onset CMT carrying nonsense variants in the ...
Marcus Vinícius Vieira da Silva Gomes, Pedro José Tomaselli, Wilson Marques Jr   +2 more
wiley   +1 more source

TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review. [PDF]

Front Oncol
Song H, Mao G, Jiao N, Li J, Gao W, Liu Y, Lu L.   +6 more
europepmc   +1 more source

Prognostic impact of ASXL1 mutations in acute myeloid leukemia treated with lower intensity therapy

Cancer, Volume 132, Issue 10, 15 May 2026.
Abstract Background ASXL1 mutations (ASXL1MUT) are common in acute myeloid leukemia (AML) and have historically conferred an adverse prognosis with intensive chemotherapy. Given the increasing use of venetoclax (VEN)‐based lower intensity therapy (LIT), the European LeukemiaNet introduced a four‐gene genetic risk classifier in 2024 that categorizes ...
Jennifer Marvin‐Peek, Courtney D. DiNardo, Sanam Loghavi, Farhad Ravandi, Gautam Borthakur, Naval G. Daver, Tapan M. Kadia, Elias Jabbour, Andrew Dunbar, Guilin Tang, Nicholas J. Short, Fadi G. Haddad, Hussein A. Abbas, Eitan Kugler, Abhishek Maiti, Ghayas C. Issa, Koichi Takahashi, Kapil Bhalla, Naveen Pemmaraju, Yesid Alvarado, Elizabeth J. Shpall, Uday Popat, Jeremy Ramdial, Richard E. Champlin, Hagop M. Kantarjian, Guillermo Garcia‐Manero, Jayastu Senapati   +26 more
wiley   +1 more source