Results 171 to 180 of about 22,114 (247)

A proposed classification for standardized reporting of liver disease in children with autosomal recessive polycystic kidney disease

JPGN Reports, EarlyView.
Kavya Kurkal, Girish L. Gupte
wiley   +1 more source

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

Broadening horizons: new links between cilia and heart development and disease. [PDF]

Front Cardiovasc Med
Ma W, Zhang Z, Ma Y, Ma C.
europepmc   +1 more source

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

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source

In-depth analysis of obesity-associated changes in adipose tissue-derived mesenchymal stromal/stem cells and primary cilia function. [PDF]

Commun Biol
Kreis NN, Friemel A, Ritter A, Hentrich AE, Siebelitz E, Louwen F, Yuan J.   +6 more
europepmc   +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

Design principles of ciliary signaling. [PDF]

J Cell Sci
Ott CM, Lippincott-Schwartz J.
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Three-dimensional beating pattern of the ciliary tip in the live ciliate Tetrahymena. [PDF]

J Cell Sci
Marumo A, Ishii H, Yamaguchi S, Sumiyoshi R, Matsuda K, Yamagishi M, Yajima J.   +6 more
europepmc   +1 more source