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Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.
Appl Clin Genet
November 2024
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, People's Republic of China.
Article Synopsis
- Syndromic hearing loss (SHL) involves diverse genetic causes, with over 400 types identified, primarily following an autosomal dominant inheritance pattern.
- A study analyzed 14 patients (ages 5-78 months) with various syndromes associated with SHL, discovering ten new genetic variants and confirming cases of well-known syndromes like Waardenburg and CHARGE.
- Results suggest that combining neonatal hearing screenings with whole exome sequencing can effectively diagnose SHL early, highlighting the need for thorough monitoring of patients due to the complexity and variability of SHL symptoms.
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.
Am J Med Genet A
October 2024
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.
Osteopathia Striata with Cranial Sclerosis (OSCS) is a rare genetic condition primarily characterized by metaphyseal striations of long bones, bone sclerosis, macrocephaly, and other congenital anomalies. It is caused by pathogenic variants in AMER1, a tumor suppressor and a WNT signaling repressor gene with key roles in tissue regeneration, neurodevelopment, tumorigenesis, and other developmental processes. While somatic AMER1 pathogenic variants have frequently been identified in several tumor types (e.
View Article and Find Full Text PDFTuning the optoelectronic properties of selenophene-diketopyrrolopyrrole-based non-fullerene acceptor to obtain efficient organic solar cells through end-capped modification.
J Mol Graph Model
June 2024
Chemistry Department, College of Science, King Khalid University (KKU), Abha 61413, P.O. Box 9004, Saudi Arabia. Electronic address:
With the goal of developing a high-performance organic solar cell, nine molecules of A-D-A-D-A type are originated in the current investigation. The optoelectronic properties of all the proposed compounds are examined by employing the DFT approach and the B3LYP functional with a 6-31G (d, p) basis set. By substituting the terminal moieties of reference molecule with newly proposed acceptor groups, several optoelectronic and photovoltaic characteristics of OSCs have been studied, which are improved to a significant level when compared with reference molecule, i.
View Article and Find Full Text PDFA Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.
J Clin Endocrinol Metab
June 2024
Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium.
Context: Osteopathia striata with cranial sclerosis (OSCS) is a rare bone disorder with X-linked dominant inheritance, characterized by a generalized hyperostosis in the skull and long bones and typical metaphyseal striations in the long bones. So far, loss-of-function variants in AMER1 (also known as WTX or FAM123B), encoding the APC membrane recruitment protein 1 (AMER1), have been described as the only molecular cause for OSCS. AMER1 promotes the degradation of β-catenin via AXIN stabilization, acting as a negative regulator of the WNT/β-catenin signaling pathway, a central pathway in bone formation.
View Article and Find Full Text PDFMoyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication.
Clin Dysmorphol
January 2024
Birmingham Children's Hospital, Birmingham Women and Children's NHS Foundation Trust, Birmingham, UK.
Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant sclerosing osteodysplasia, due to AMER1 pathogenic variants. Characteristic features include craniofacial sclerosis and long-bone metaphyseal striations. Moyamoya disease (a type of progressive cerebral vasculopathy) and other types of cerebral vascular disease are not currently clearly associated with OSCS (except for two separate case reports), and can often first present with stroke.
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