Results 211 to 220 of about 1,560,009 (266)

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Olfactory Function in Cystic Fibrosis: Outcome Measures, Olfactory Dysfunction Prevalence and the Impact of Management—A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction (OD) is an increasingly recognized but under‐investigated comorbidity of cystic fibrosis (CF). Its prevalence, assessment methods, and response to CF‐directed treatment, including highly effective modulator therapy (HEMT) remains incompletely characterized.
Luca Cox, Kofi Cox, Katherine Whitcroft, Susanne Weise, Sonal Kansra, Eishaan Bhargava   +5 more
wiley   +1 more source

Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology

Annals of Neurology, EarlyView.
Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko, Kalliopi Mavromati, Lynne Hughes, Jonas S. Sundarakumar, Keeley Brookes, Kevin Morgan, Terry Quinn, Valentina Escott‐Price, the Alzheimer's Disease Neuroimaging Initiative   +8 more
wiley   +1 more source

Engineered 3D Fibronectin‐Based Environments Modulate the Pathogenic Profile of Arthritic Synovial Fibroblasts

Advanced NanoBiomed Research, EarlyView.
Fibroblast behavior is shaped by the surrounding microenvironment, yet conventional culture systems often fail to capture disease‐relevant phenotypes. Here, platform‐dependent responses of healthy and arthritic synovial fibroblasts are examined across 2D and 3D culture systems. Distinct inflammatory and proliferative signatures emerge, highlighting how
Aneesah Khan, Piaopiao Pan, Yanling Lan, Çağlar Çi̇l, Julia Isakova, Yilin Wang, Theodora Rogkoti, Thanutchaporn Sartyoungkul, James F. C. Windmill, Jonathan William, Manuel Salmeron‐Sanchez, Margaret H. Harnett, Oana Dobre, Miguel A. Pineda   +13 more
wiley   +1 more source

Biomimetic Nanomedicine for Aging‐Impaired Bone Regeneration: From Microenvironmental Dysfunction to Precision Therapeutics

Advanced NanoBiomed Research, EarlyView.
Aging disrupts the cellular, immune, vascular, and neural processes required for bone regeneration. This review connects these pathological barriers with biomimetic nanomedicine design, highlighting strategies for cellular rejuvenation, immune modulation, vascular regeneration, and neuro–bone coupling.
Zeyu Wang, He Zhang, Simo Liu, Rui Wang, Yiran Wei, Kailu Zheng, Yanming Guo, Min Li, Dian Yuan, Yuxin Liu, Lifang Feng, Yongping Ma, Yan Liu   +12 more
wiley   +1 more source

Mining buried plant trait data from the Global Biodiversity Information Facility (GBIF): Comparison and integration with multiple plant trait databases

Applications in Plant Sciences, EarlyView.
Abstract Premise Despite the availability of several plant trait databases, significant traits remain undocumented for a substantial number of species. To address this issue, the current study explored digital text from the Global Biodiversity Information Facility (GBIF) as an innovative source of plant trait information and evaluated its capacity to ...
Takuro Katori, Michio Oguro
wiley   +1 more source

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

Previously undocumented regional variability in crab‐eating macaque skull sexual dimorphism and its implications for biological and morphometric studies

The Anatomical Record, EarlyView.
Abstract In a large sample of adult crab‐eating macaques, we quantified sexual dimorphism in size, shape, and covariance across the whole skull and among anatomical regions of the cranium and mandible. All regions showed significant mean sex differences, but the magnitude of size and shape dimorphism varied substantially.
Andrea Cardini, Paul O'Higgins
wiley   +1 more source

Histological Characterization and Comparative Transcriptomic Analysis of Gonads During Early Sex Differentiation in the Northern Snakehead (Channa argus)

Animal Research and One Health, EarlyView.
This study delineates the early sex differentiation timeline in the northern snakehead (Channa argus). These findings provide a foundation for future sex‐control breeding in this economically important species. ABSTRACT The northern snakehead (Channa argus) is an economically important aquaculture species in China.
Chaonan Sun, Donglei Sun, Haishen Wen, Xin Qi, Chao Li, Xiaoyan Zhang, Yun Li   +6 more
wiley   +1 more source