Results 191 to 200 of about 78,237 (351)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

ARL13B controls male reproductive tract physiology through primary and Motile Cilia

Communications Biology
ARL13B is a small regulatory GTPase that controls ciliary membrane composition in both motile cilia and non-motile primary cilia. In this study, we investigated the role of ARL13B in the efferent ductules, tubules of the male reproductive tract essential
Céline Augière, Gabriel Campolina-Silva, Aaran Vijayakumaran, Odara Medagedara, Camille Lavoie-Ouellet, Charles Joly Beauparlant, Arnaud Droit, Ferran Barrachina, Kiera Ottino, Maria Agustina Battistone, Kedar Narayan, Rex Hess, Vito Mennella, Clémence Belleannée   +13 more
doaj   +1 more source

Regulation of Brain Primary Cilia Length by MCH Signaling: Evidence from Pharmacological, Genetic, Optogenetic, and Chemogenic Manipulations

, 2021
Wedad Alhassen, Yuki Kobayashi, Jessica Su, Brianna Robbins, Henry Nguyen, Thant Myint, Micah Yu, Surya M. Nauli, Yumiko Saito, Amal Alachkar   +9 more
openalex   +2 more sources

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Recent Progress in Treating Airway Mucus Hypersecretion by Targeting the Epidermal Growth Factor Receptor Signaling Pathway

Pediatric Discovery, EarlyView.
ABSTRACT Asthma, chronic pulmonary obstructive disease (COPD), cystic fibrosis, and acute respiratory infections are severe respiratory conditions that significantly contribute to global morbidity and mortality. Airway mucus hypersecretion is an important common pathophysiological and clinical manifestation of these diseases and is closely associated ...
Yuanyuan Zhang, Fuping Yang, Chunyu Yan, Yu Deng, Enmei Liu   +4 more
wiley   +1 more source

Growth/differentiation factor 15 controls primary cilia morphology in the murine ventricular-subventricular zone thereby affecting progenitor proliferation [PDF]

, 2023
Katja Baur, Şeydanur Şan, Gabriele Hölzl‐Wenig, Claudia Mandl, Andrea Hellwig, Francesca Ciccolini   +5 more
openalex   +1 more source

Primary cilia

Journal of Oral and Maxillofacial Pathology, 2017
openaire   +3 more sources

Therapeutic potential of tetrahydroxylated bile acids in reducing liver injury: Insights from the Zfyve19−/− mouse model

Pediatric Investigation, EarlyView.
THBA (3α,6α,7α,12α‐Tetrahydroxy‐10β,13β‐pentanoic acid) administration can alleviate cholestatic liver injury, hepatocellular necrosis, inflammatory response, bile duct hyperplasia, and portal fibrosis in the Zfyve19−/− mouse model. This evaluation encompasses various parameters, including serum biochemistry, liver histology, immunostaining, and ...
Li Wang, Yue Yu, Jiayan Feng, Yanan Zhang, Renxue Wang, Huiyu She, Teng Liu, Victor Ling, Jianshe Wang   +8 more
wiley   +1 more source

Strain-induced mechanotransduction through primary cilia, extracellular ATP, purinergic calcium signaling, and ERK1/2 transactivates CITED2 and downregulates MMP-1 and MMP-13 gene expression in chondrocytes [PDF]

, 2015
Zhiyong He, Daniel J. Leong, Zewei Zhuo, Robert J. Majeska, Luís Cardoso, David C. Spray, Mary B. Goldring, Neil Cobelli, Hui Sun   +8 more
openalex   +1 more source

Epigenetic Dysregulation of the NKX2‐1/SPDEF Axis Drives Persistent Goblet Cell Differentiation and Epithelial Barrier Dysfunction in Chronic Obstructive Pulmonary Disease

Respirology, EarlyView.
This study investigated airway epithelial barrier dysfunction persistence in ex‐smokers with COPD and underlying mechanisms using single‐cell RNA and ATAC sequencing. Epigenetic NKX2‐1/SPDEF dysregulation maintains goblet cell hyperplasia and barrier dysfunction despite long‐term smoking cessation.
Ayaka Shiota, Keiko Kan‐o, Yumiko Ishii, Tomoaki Koga, Takeshi Sawada, Kei‐ichiro Yasunaga, Shingo Usuki, Tatsuya Katsuno, Shigesato Inoue, Tomohiro Ogawa, Akihiro Jo, Satoru Fukuyama, Mitsuyoshi Nakao, Hiroaki Ogata, Mizuho A. Kido, Sachiko Tsukita, Koichiro Matsumoto, Isamu Okamoto   +17 more
wiley   +1 more source