Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology
Stüve-Wiedemann syndrome (STWS; OMIM# 610559) is a rare bent-bone dysplasia that
includes radiologic bone anomalies, respiratory distress, feeding difficulties, and …
includes radiologic bone anomalies, respiratory distress, feeding difficulties, and …
Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate
J Hu, J Lu, G Lian, RJ Ferland… - Human molecular …, 2014 - academic.oup.com
Filamin B (FlnB) is an actin-binding protein thought to transduce signals from various
membrane receptors and intracellular proteins onto the actin cytoskeleton. Formin1 (Fmn1) …
membrane receptors and intracellular proteins onto the actin cytoskeleton. Formin1 (Fmn1) …
Airway malacia in children with achondroplasia
KE Dessoffy, P Modaff, RM Pauli - American Journal of Medical …, 2014 - Wiley Online Library
This study was undertaken to assess the frequency of airway malacia in infants and young
children with achondroplasia, a population well known to be at risk for a variety of respiratory …
children with achondroplasia, a population well known to be at risk for a variety of respiratory …
Filamin B regulates chondrocyte proliferation and differentiation through Cdk1 signaling
Humans who harbor loss of function mutations in the actin-associated filamin B (FLNB) gene
develop spondylocarpotarsal syndrome (SCT), a disorder characterized by dwarfism …
develop spondylocarpotarsal syndrome (SCT), a disorder characterized by dwarfism …
[PDF][PDF] Filamin: a structural and functional biomolecule with important roles in cell biology, signaling and mechanics
HP Modarres, MRK Mofrad - Molecular & Cellular Biomechanics, 2014 - cdn.techscience.cn
Focal adhesions are the immediate sites of the cell's adhesive interaction with the
extracellular matrix and as such play a key role in mechanosensing and …
extracellular matrix and as such play a key role in mechanosensing and …
Craniosynostosis: a previously unreported association with: CHST3:-related skeletal dysplasia (autosomal recessive Larsen syndrome)
C Searle, R Jewell, J Kraft, P Stoebe… - Clinical …, 2014 - journals.lww.com
Discussion Congenital dislocations are seen in a number of conditions including autosomal
dominant Larsens syndrome (ADLS) due to filamin-B mutation (Bicknell et al., 2007) and …
dominant Larsens syndrome (ADLS) due to filamin-B mutation (Bicknell et al., 2007) and …
A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
KM Girisha, H Abdollahpour, H Shah… - American Journal of …, 2014 - Wiley Online Library
We report on an adolescent girl with sparse scalp hair, wide columella extending below alae
nasi, webbing at elbows, broad finger tips, short distal phalanx of fingers, swan neck …
nasi, webbing at elbows, broad finger tips, short distal phalanx of fingers, swan neck …
Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome
Fast and Early Mandibular Osteogenetic Distraction in a 24-D... : Journal of Craniofacial Surgery
Fast and Early Mandibular Osteogenetic Distraction in a 24-Day-Old Female Newborn With …
Fast and Early Mandibular Osteogenetic Distraction in a 24-Day-Old Female Newborn With …
[PDF][PDF] Inter-domain interactions in filamins
R Sethi - 2014 - jyx.jyu.fi
Ritika Sethi Inter-domain Interactions in Filamins Page 1 JYVÄSKYLÄ STUDIES IN
BIOLOGICAL AND ENVIRONMENTAL SCIENCE 279 Ritika Sethi Inter-domain Interactions …
BIOLOGICAL AND ENVIRONMENTAL SCIENCE 279 Ritika Sethi Inter-domain Interactions …
Familiar case of Larsen syndrome
N Cerovac, G Čuturilo, S Dučić - Acta chirurgica Iugoslavica, 2014 - doiserbia.nb.rs
Introduction. Larsen syndrome is a rare, auto-somal-dominant disorder characterized by flat
face with hypertelorism, multiple large-joint dislocations, kyphoscoliosis and equnovarus or …
face with hypertelorism, multiple large-joint dislocations, kyphoscoliosis and equnovarus or …