Results 151 to 160 of about 4,210 (197)
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Clinical Genetics, EarlyView.In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Clinical Genetics, EarlyView.This study evaluated growth hormone (GH) therapy in children from an extended family with genetically confirmed ACAN‐related short stature. While GH treatment improved growth velocity, the response varied among individuals, and its long‐term impact on final adult height remains to be determined.
Einat Shalev‐Goldman +5 more
wiley +1 more source
Clinical Genetics, EarlyView.A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao +4 more
wiley +1 more source
Clinical Genetics, EarlyView.To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source
Clinical Genetics, EarlyView.Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart +17 more
wiley +1 more source
Clinical Otolaryngology, EarlyView.ABSTRACT Objectives This study aimed to evaluate the olfactory and gustatory functions of patients with nasal septal deviation (NSD) and identify the factors associated with olfactory loss (OL) and gustatory loss (GL). Design and Setting Retrospective data analysis of cohort group. Participants Two‐hundred fourteen adult patients with NSD at a tertiary
Ja‐Yoon Kim +3 more
wiley +1 more source
Cell Proliferation, EarlyView.Maternal nutrient restriction disrupts placental homeostasis via GAB1 dysregulation—involving both transcriptional downregulation and autophagy‐dependent protein degradation. These molecular alterations inhibit MAPK signalling‐mediated trophoblast fusion, leading to structural and functional deficits in the maternal–fetal exchange interface.
Mingming Fan +9 more
wiley +1 more source
Cell Proliferation, EarlyView.FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong +9 more
wiley +1 more source
Cell Proliferation, EarlyView.CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far +4 more
wiley +1 more source