Results 141 to 150 of about 27,823 (222)

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source

DPYD genotyping in patients receiving capecitabine: an exploratory analysis from the D-TORCH study. [PDF]

Front Pharmacol
Baskarane H, Divakar MK, Santhosh AP, Pallavi K, Hooda V, Yenamandra VK, Kumar S, Shetty V, Banotra J, Gupta I, Minocha S, Tanwar P, Sharma A, Vasudeva P, Kumar A, Chethan R, Bakhshi S, Batra A.   +17 more
europepmc   +1 more source

A Noncanonical MET Exon 14 Splice‐Site Variant in Pulmonary Sarcomatoid Carcinoma With Response to Capmatinib

Thoracic Cancer, Volume 17, Issue 15, August 2026.
We describe a patient with pulmonary sarcomatoid carcinoma harboring a noncanonical MET splice donor–proximal indel, initially reported as a VUS, who achieved a rapid response to capmatinib. RNA sequencing and ddPCR confirmed exon 14 skipping, supporting orthogonal transcript‐level validation for exon‐adjacent variants. ABSTRACT MET exon 14 skipping is
Hyung‐Joo Oh, Yoo‐Duk Choi, Yoon‐La Choi, Ha‐Young Park, Joon‐Young Yoon, Jang‐Hyeon Kim, Jung‐Hwan Lim, Cheol‐Kyu Park, In‐Jae Oh, Young‐Chul Kim   +9 more
wiley   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Exonic enhancers are a widespread class of dual-function regulatory elements. [PDF]

Nat Commun
Mouren JC, Torres M, van Ouwerkerk A, Manosalva I, Gallardo F, Spicuglia S, Ballester B.   +6 more
europepmc   +1 more source

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, Volume 183, Issue 16, Page 4735-4760, August 2026.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

<i>TMPRSS6</i> Non-Coding Variants in the Expression of Iron Refractory Iron Deficiency Anemia in Monoallelic Subjects. [PDF]

Genes (Basel)
Hoving V, Donker AE, Smeets RJP, van den Heuvel BPWJ, Schols SEM, Swinkels DW.   +5 more
europepmc   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Diverse Processes Drive the Origination and Maturation of an Array of Enhancers and Silencers During a Vast Evolutionary Timescale of a Bicistronic Gene. [PDF]

Genes (Basel)
Delihas N.
europepmc   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source