Results 71 to 80 of about 2,478 (209)

Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans [PDF]

, 2017
Specific germline activating point mutations in the gene encoding the tyrosine kinase receptor FGFR3 (fibroblast growth factor receptor 3) result in autosomal dominant human skeletal dysplasias.
Blanche, Martine, Dunois-Lardé, Claire, Gasc, Jean-Marie, Jorcano, Jose, Levrel, Olivier, Logié, Armelle, Radvanyi, François, Ribeiro, Agnès, Rosty, Christophe, Sastre-Garau, Xavier, Thiery, Jean Paul, Werner, Sabine   +11 more
core  

Uptake rates for non‐invasive prenatal screening for single‐gene disorders associated with advanced paternal age

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract This study sought to quantify uptake rates of non‐invasive prenatal screening for de novo single‐gene disorders (NIPS‐SGD) in pregnant subjects whose reproductive partner is of advanced paternal age (APA) and to determine individual parameters associated with higher test uptake rates.
Kylie Katz, Justin S. Brandt, Gary Heiman, Laurie Simone, Shama Khan, Pranali Shingala, Elena Ashkinadze   +6 more
wiley   +1 more source

New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. [PDF]

PLoS ONE, 2009
Endochondral ossification is the process by which the appendicular skeleton, facial bones, vertebrae and medial clavicles are formed and relies on the tight control of chondrocyte maturation. Fibroblast growth factor receptor (FGFR)3 plays a role in bone
Laurent Schibler, Linda Gibbs, Catherine Benoist-Lasselin, Charles Decraene, Jelena Martinovic, Philippe Loget, Anne-Lise Delezoide, Marie Gonzales, Arnold Munnich, Jean-Philippe Jais, Laurence Legeai-Mallet   +10 more
doaj   +1 more source

Thanatophoric dysplasia type 1 (TD1): a case report [PDF]

, 2017
Thanatophoric Dysplasia (TD) is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur,
Sharma, Chandra Madhur, Sharma, Deepti
core   +1 more source

A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio. [PDF]

, 2019
OBJECTIVES: The objectives of this study are to develop gestational age-specific growth curves for fetal third metacarpal and phalangeal lengths and to determine if fetal hand proportion is established in utero.
Afshar, Yalda, DeVore, Greggory, Gornbein, Jeffrey, Krakow, Deborah, Platt, Lawrence, Rao, Rashmi   +5 more
core   +1 more source

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study

Frontiers in Genetics, 2023
Background: Prenatal diagnosis of fetal short long bones (SLBs) was reported to be associated with skeletal dysplasias, chromosomal abnormalities, and genetic syndromes.
Yanlin Huang, Chang Liu, Hongke Ding, Yunan Wang, Lihua Yu, Fangfang Guo, Fake Li, Xiaomei Shi, Yan Zhang, Aihua Yin   +9 more
doaj   +1 more source

Complicated Spinal Stenosis and Spinal Deformity in Patients with Achondroplasia: Case Series and Review of the Literature

Orthopaedic Surgery, Volume 16, Issue 12, Page 3059-3067, December 2024.
Achondroplasia has a major impact on a patient's skeletal growth and can cause spinal stenosis, spinal abnormalities, and other locomotor system issues. Surgery is still the primary therapy for musculoskeletal system complications. Objective Due to the low incidence of achondroplasia (Ach), there is a relative lack of research on the treatment and ...
Wenyang Fu, Xianlei Gao, Xia Wang, Rongkun Xu, Shangye Li, Lianlei Wang, Xinyu Liu   +6 more
wiley   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia. [PDF]

PLoS ONE, 2013
Achondroplasia (ACH) is one of the most common skeletal dysplasias with short stature caused by gain-of-function mutations in FGFR3 encoding the fibroblast growth factor receptor 3. We used the drug repositioning strategy to identify an FDA-approved drug
Masaki Matsushita, Hiroshi Kitoh, Bisei Ohkawara, Kenichi Mishima, Hiroshi Kaneko, Mikako Ito, Akio Masuda, Naoki Ishiguro, Kinji Ohno   +8 more
doaj   +1 more source

FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies

Cancer Communications, Volume 44, Issue 10, Page 1189-1208, October 2024.
Abstract In this review, we revisit the pivotal role of fibroblast growth factor receptor 3 (FGFR3) in bladder cancer (BLCA), underscoring its prevalence in both non‐muscle‐invasive and muscle‐invasive forms of the disease. FGFR3 mutations in up to half of BLCAs play a well‐established role in tumorigenesis, shaping distinct tumor initiation patterns ...
Maxim Noeraparast, Katarina Krajina, Renate Pichler, Dora Niedersüß‐Beke, Shahrokh F Shariat, Viktor Grünwald, Sascha Ahyai, Martin Pichler   +7 more
wiley   +1 more source