Results 171 to 180 of about 256,394 (202)

Emerging Roles of PSTPIP2 in Autoimmunity: From Mechanism to Therapeutic Implications

Immunology, EarlyView.
PSTPIP2 acts as a key brake on myeloid inflammation by suppressing IL‐1β‐driven signalling, macrophage dysregulation and inflammation‐associated bone remodelling. Its emerging roles in CRMO/CMO, rheumatoid arthritis, SAPHO syndrome and bullous pemphigoid support its potential as a biomarker and therapeutic target.
Erdong Zhang, Fengyu Liu, Yongle Wei, Guoqiang Li, Liujie Zheng, Lin Jin, Feng Luan, Yingze Zhang, Ling Wang, Zhiyong Hou   +9 more
wiley   +1 more source

Evaluating Selection Strategies Based on Inbreeding Load via Simulation

Journal of Animal Breeding and Genetics, EarlyView.
ABSTRACT Inbreeding load is the fraction of the mutation load that is due to recessive action of mutations. This load is only expressed in individual's inbred offspring. As such, inbreeding load contributes to genetic heterogeneity among individuals and can thus be used as a criterion of selection.
Simona Antonios, Jana Obšteter, Ivan Pocrnic, Gregor Gorjanc, Silvia T. Rodríguez‐Ramilo, Zulma G. Vitezica   +5 more
wiley   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series

Oral Diseases, EarlyView.
ABSTRACT Background Dyskeratosis congenita (DKC) is a rare inherited multisystem disorder primarily affecting the mucocutaneous and hematopoietic systems. Classically, it presents with the ectodermal triad of reticulate skin pigmentation, nail dystrophy, and oral leukoplakia.
Yehuda Zadik, Ori Finfter, Tevel Amiel, Amina Massarwa, Refael Cohen, Jawad Abu Tair, Anna Novikov, Polina Stepensky, Irina Zaidman, Ehud Even‐Or   +9 more
wiley   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Normal thromboelastography with a markedly prolonged activated partial thromboplastin time in severe prekallikrein deficiency: Implications for perioperative hemostatic assessment

Transfusion, EarlyView.
Abstract Background Prekallikrein (PK) deficiency is a rare contact factor deficiency that can markedly prolong the activated partial thromboplastin time (aPTT) without a bleeding phenotype. Because viscoelastic hemostatic assays also rely on contact activation, their behavior in severe PK deficiency is relevant to perioperative evaluation of isolated ...
Jeremy W. Jacobs, Anton Matafonov, Patricia G. Baxter, Qiufang Cheng, Garrett S. Booth, Deva Sharma, Benjamin F. Tillman, David Gailani   +7 more
wiley   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

hERG1 channels and potential therapeutics for long QT syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider, Kelly A. Aromolaran, Michael C. Sanguinetti, Ademuyiwa S. Aromolaran   +3 more
wiley   +1 more source

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source