Results 311 to 320 of about 5,628,138 (356)

Factors That Influence Primary Cilium Length

Factors That Influence Primary Cilium Length
Almost all mammalian cells carry one primary cilium that functions as a biosensor for chemical and mechanical stimuli. Genetic damages that compromise cilia formation or function cause a spectrum of disorders referred to as ciliapathies. Recent studies have demonstrated that some pharmacological agents and extracellular environmental changes can alter ...
openaire  

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Impaired Glucose Metabolism, Primary Cilium Defects, and Kidney Cystogenesis in Glycogen Storage Disease Type Ia. [PDF]

J Am Soc Nephrol
Monteillet L, Perrot G, Evrard F, Miliano A, Silva M, Leblond A, Nguyen C, Terzi F, Mithieux G, Rajas F.   +9 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Mechanical signalling in osteoarticular tissues [PDF]

, 2010
Lee, Herng-Sheng, Salter, Donald
core  

Happiness and Smell: Overlooked Factors in Endoscopic Sinus Surgery?

Clinical Otolaryngology, EarlyView.
ABSTRACT Objective This study investigates the impact of functional endoscopic sinus surgery (FESS) on happiness levels in patients with chronic rhinosinusitis with nasal polyps (CRSwNP) and examines the factors influencing postoperative happiness. Methods This study included 55 patients (34 males, 21 females; mean age, 41.2 ± 14.7 years) who underwent
Tuğba Tulacı, Omer Hizli, Hasan Çanakçı, Mustafa Utku Akbaş, Kamil Gökçe Tulacı   +4 more
wiley   +1 more source

Formaldehyde Emissions From 2‐Octyl Cyanoacrylate: Quantified Risk for Allergic Contact Dermatitis

Contact Dermatitis, EarlyView.
This study found that 2‐octyl cyanoacrylate skin adhesives release formaldehyde at levels up to 8.4× above EPA dermal thresholds and up to 2.41× above NIOSH airborne limits, producing exposures sufficient to provoke allergic and irritant contact dermatitis in patients.
Daniel S. Rouhani, Paul M. Villalobos, Steven Zeng, Reza Ghodsi, Kavana M. Sanjay, Simrin A. Singh, M. Mark Mofid   +6 more
wiley   +1 more source

Women's Representation on Boards and Board Processes: Curvilinear Relationships, Moderated by Board Chair Authentic Leadership

Corporate Governance: An International Review, EarlyView.
ABSTRACT Research Question/Issue We examine how women's representation on boards (WRB) shapes board processes (effort norms, cognitive conflict, and use of knowledge and skills) and how board chairs' leadership moderates those relationships. Our theory integrates insights from information processing theory with intergroup threat theory.
Claude Francoeur, Corinne Post, Samuel Sponem, Caroline Aubé   +3 more
wiley   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source