Results 41 to 50 of about 5,366 (132)

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

Experiences of children and adolescents living with achondroplasia and their caregivers

Molecular Genetics & Genomic Medicine, 2022
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health‐related quality of life (HRQoL) of ...
Renée Shediac, Olga Moshkovich, Heather Gerould, Rachel Ballinger, Agnes Williams, M. Alex Bellenger, Jennifer Quinn, Julie Hoover‐Fong, Klaus Mohnike, Ravi Savarirayan, Dominique Kelly   +10 more
doaj   +1 more source

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

Nature Communications
Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using ...
Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold Matthews, Jay Devine, Jose D. Aponte, Joanne Cole, Mark Shriver, Mary L. Marazita, Seth M. Weinberg, Susan Walsh, Stephen Richmond, Ophir D. Klein, Richard A. Spritz, Hilde Peeters, Benedikt Hallgrímsson, Peter Claes   +16 more
doaj   +1 more source

NFYB Integrates Hormonal Signals into Tissue Allometry by Promoting Protein Biosynthesis

Advanced Science, Volume 13, Issue 46, 17 August 2026.
In the American cockroach, NFYB acts as a spatiotemporin that translates distinct hormonal cues into tissue‐specific allometry. Juvenile hormone activates NFYB in the early fat body, while 20‐hydroxyecdysone induces it in late wing pads. NFYB then promotes protein biosynthesis via core translational machinery, driving differential growth across the ...
Fangfang Liu, Shiming Zhu, Sishi Xia, Xiaoshuai Zhang, Qin Li, Zhanquan Zeng, Yuqing Liu, Wanyin Liang, Guanyu Zhou, Erxia Du, Suning Liu, Sheng Li   +11 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Hypochondroplasia: An underrecognized neurodevelopmental disorder

Developmental Medicine &Child Neurology, EarlyView.
Janet M. Legare
wiley   +1 more source

Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age‐Stratified Guidelines

Orthodontics &Craniofacial Research, Volume 29, Issue 4, Page 593-610, August 2026.
ABSTRACT This systematic review aimed to collect and appraise the clinical outcomes of all orthopaedic, orthodontic and surgical interventions in ACH patients. Following PROSPERO protocol, multiple database sources were searched to December 2024 with no language restrictions for (i) genetically confirmed ACH; (ii) any orthodontic/orthopaedic ...
Marco Farronato, Maria Francesca Bedeschi, Cristina Grippaudo, Gianluca Martino Tartaglia, Berardo Rinaldi, Cinzia Maspero   +5 more
wiley   +1 more source

Closely Monitored Successful Full‐Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review

Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 7, July 2026.
ABSTRACT Spondyloepiphyseal dysplasia congenita (SEDC) is a rare skeletal dysplasia caused by heterozygous pathogenic variants in COL2A1, with short‐trunk stature and respiratory compromise during pregnancy. We report a 30‐year‐old primigravida with SEDC who achieved full‐term delivery under multidisciplinary management.
Masako Ueki, Motoki Ono, Motoko Kamiya, Yusuke Yokokawa, Yasuhiro Tanaka, Ryoichi Asaka, Chiho Fuseya, Norihiko Kikuchi, Tanri Shiozawa, Tsutomu Miyamoto   +9 more
wiley   +1 more source