Results 251 to 260 of about 164,456 (390)

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

Correction: A New TGF-β Mimetic, XEP™-716 Miniprotein™, Exhibiting Regenerative Properties Objectivized by Instrumental Evaluation

Dermatology and Therapy
Hanane Chajra, Thibaut Saguet, Corinne Granger, Lionel Breton, Pedro Contreiras Pinto, Mickael Machicoane, Jean Marc Le Doussal   +6 more
doaj   +1 more source

Editorial: Advances in cilia and flagella research. [PDF]

Front Cell Dev Biol
Wirschell M, Lee L, Liu A.
europepmc   +1 more source

RGO/TiO₂ nanosheets immobilized on magnetically actuated artificial cilia film: a new mode for efficient photocatalytic reaction

, 2017
Wei Wang, Xiaogu Huang, Min Lai, Chunhua Lu   +3 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

Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis [PDF]

, 2014
Shobi Veleri, Souparnika H. Manjunath, Robert N. Fariss, Helen May‐Simera, Matthew Brooks, Trevor A. Foskett, Chun Gao, Teresa A. Longo, Pinghu Liu, Kunio Nagashima, Rivka A. Rachel, Tiansen Li, Lijin Dong, Anand Swaroop   +13 more
openalex   +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

Challenges in differentiating cilia and protozoal flagella

, 2017
Rafael Martínez‐Girón, Hugo van Woerden   +1 more
openalex   +1 more source

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

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