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http://dx.doi.org/10.1002/ppul.71218 | DOI Listing |
Gut
September 2025
Gastrointestinal Genetics Lab, CIC bioGUNE - BRTA, Derio, Spain
J Allergy Clin Immunol Glob
November 2025
Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
In individuals with hypomorphic mutations of , inflammatory or autoimmune disorders are rare. We present a child with prolonged and severe interstitial lung disease, Omenn-like syndrome, and a novel frameshift variant in .
View Article and Find Full Text PDFAm J Hum Genet
September 2025
University Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France. Electronic address:
The widely used American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) variant classification system is inherently limited by its binary categorization of variants as "pathogenic" or "benign," failing to account for the full spectrum of variant effects within the complex genetic architecture of human disease. Although various refinements have been proposed, a framework that adequately captures this continuum remains to be established. To address this limitation, we conducted an in-depth analysis of SPINK1 variants associated with chronic pancreatitis (CP), a disorder ranging from Mendelian to environmentally influenced forms.
View Article and Find Full Text PDFCalpainopathy is a progressive autosomal recessive limb girdle muscular dystrophy (LGMD R1) caused by variants in the calpain 3 (CAPN3) gene. We have shown that the hypomorphic intronic mutation c.1746-20C > G, which is common in Latvia (MAF 0.
View Article and Find Full Text PDFRes Sq
August 2025
Medical Science Training Program, University of Michigan Medical School, 3703 Med Sci II, 1241 E. Catherine St., Ann Arbor, MI, 48109-5618, USA.
Polycomb Repressive Complex 1 (PRC1) catalyzes H2AK119ub1 to facilitate transcriptional repression during development. dominant missense variants in , the principal E3 ligase of PRC1, are the genetic basis of Luo-Schoch-Yamamoto syndrome. To investigate the developmental impact of catalytically impaired RNF2 alleles, we engineered hESC lines harboring homozygous hypomorphic missense alleles ( ) that stably expresses RNF2 but results in reduced H2AK119ub1.
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