Results 1 to 10 of about 4,156 (68)

The Awake Resting Breathing and Thoraco-Abdominal Pattern In Children With Achondroplasia: A Pilot Cross-Sectional Study. [PDF]

Health Sci Rep
Health Science Reports, Volume 8, Issue 4, April 2025.
LoMauro A, Tringali G, Sartorio A, Sessa M, Aliverti A.   +4 more
europepmc   +2 more sources

Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia

The Anatomical Record, EarlyView., 2023
Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine, Nishchal Sapkota, Kazuhiko Kawasaki, Yejia Zhang, Danny Z. Chen, Mizuho Kawasaki, Emily L. Durham, Yann Heuzé, Laurence Legeai‐Mallet, Joan T. Richtsmeier   +9 more
wiley   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Dosage‐dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses

The Anatomical Record, EarlyView.
Abstract Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 syndromic associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains a challenge.
Heather A. Richbourg, Marta Vidal‐García, Katherine A. Brakora, Jay Devine, Risa Takenaka, Nathan M. Young, Siew‐Ging Gong, Amanda Neves, Benedikt Hallgrímsson, Ralph S. Marcucio   +9 more
wiley   +1 more source

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comprising 229 cases with VM.
Anouk Moens, Zoe Albersnagel, Marieke B. Veenhof, Phebe N. Adama van Scheltema, Esther Sikkel, Mariëtte J. V. Hoffer, Brigitte H. W. Faas, Dineke Westra, Ilse Feenstra, Emilia K. Bijlsma, Gijs W. E. Santen, Corrie E. Erasmus, Cacha M. P. C. D. Peeters‐Scholte   +12 more
wiley   +1 more source

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová, Karin E. M. Diderich, Wichor M. Bramer, Sander Lamballais, Malgorzata Ilona Srebniak   +4 more
wiley   +1 more source

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders

Acta Paediatrica, EarlyView.
ABSTRACTAimType II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1.
Shumin Zhan, Qin He, Jinna Yuan, Xiaoqin Xu, Ke Huang, Guanping Dong, Junfen Fu, Dingwen Wu, Wei Wu   +8 more
wiley   +1 more source

Phosphodiesterase 3 inhibitors boost bone outgrowth

British Journal of Pharmacology, EarlyView.
Background and Purpose C‐type natriuretic peptide (CNP) stimulates skeletal growth by acting on the growth plates of long bones, and a CNP variant is clinically used for achondroplasia treatment. We previously reported that CNP stimulates the autonomic Ca2+ influx mediated by TRPM7 channels in growth plate chondrocytes to facilitate extracellular ...
Takaaki Kawabe, Atsuhiko Ichimura, Tomoki Yasue, Jianhong Li, Haruki Ishikawa, Ga Eun Kim, Hiroki Nagatomo, Naoto Minamino, Yohei Ueda, Hiromu Ito, Miyuki Nishi, Hiroshi Takeshima   +11 more
wiley   +1 more source

How admixed captive breeding populations could be rescued using local ancestry information

Molecular Ecology, EarlyView.
Abstract This paper asks the question: can genomic information be used to recover a species that is already on the pathway to extinction due to genetic swamping from a related and more numerous population? We show that a breeding strategy in a captive breeding program can use whole genome sequencing to identify and remove segments of DNA introgressed ...
Daniel J. Lawson, Jo Howard‐McCombe, Mark Beaumont, Helen Senn   +3 more
wiley   +1 more source

The Genomics Revolution in Nonmodel Species: Predictions vs. Reality for Salmonids

Molecular Ecology, EarlyView.
ABSTRACT The increasing feasibility of whole‐genome sequencing has been highly anticipated, promising to transform our understanding of the biology of nonmodel species. Notably, dramatic cost reductions beginning around 2007 with the advent of high‐throughput sequencing inspired publications heralding the ‘genomics revolution’, with predictions about ...
Samuel A. May, Samuel W. Rosenbaum, Devon E. Pearse, Marty Kardos, Craig R. Primmer, Diana S. Baetscher, Robin S. Waples   +6 more
wiley   +1 more source