Results 21 to 30 of about 2,855 (182)
Human Mutation, 2022 Different pathogenic variants in the fibrillin-1 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia, acromelic dysplasia patients present with short stature, brachydactyly, stiff joints, and hypermuscularity.
Silke Peeters +4 more
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A trans-acting protein effect causes severe eye malformation in the Mp mouse. [PDF]
PLoS Genetics, 2013 Mp is an irradiation-induced mouse mutation associated with microphthalmia, micropinna and hind limb syndactyly. We show that Mp is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2 and ...
Joe Rainger +12 more
doaj +2 more sources
American journal of human genetics, 1997 Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically related to the Marfan syndrome. CCA has recently been shown to result from mutations in the FBN2 gene, which encodes an elastin-associated microfibrillar protein called fibrillin-2. Two siblings are reported here with classic manifestations of CCA with
Putnam, E. A. +4 more
openaire +3 more sources
Czech Journal of Animal Science, 2008 Skeletal muscle growth is determined by the number of prenatally formed fibres and by the degree of their postnatal hypertrophy; i.e. prenatal development may influence the postnatal growth.
K. Bílek +7 more
doaj +2 more sources
Oestrogen receptor phosphorylation profiles and in silico PAM50 subtyping reflect sexual dimorphism in breast cancer. [PDF]
J Pathol Clin ResAbstract Breast cancer (BC) is most prevalent in females but also accounts for <1% of male cancer cases and 0.2% of male cancer‐related deaths. Distribution of histological subtypes, receptor status, and age of diagnosis varies based on sex, and a growing body of evidence supports sex‐specific molecular differences in BC.
Chatterji S +11 more
europepmc +2 more sources
International Journal of Molecular Sciences, 2022 Most chronic wounds are characterized by varying degrees of hypoxia and low partial pressures of O2 that may favor the development of the wound and/or delay healing. However, most studies regarding extracellular matrix remodeling in wound healing are conducted under normoxic conditions.
Jérémy Boizot +6 more
openaire +3 more sources
Correction: Intravitreal injection of fibrillin 2 (Fbn2) recombinant protein for therapy of retinopathy in a retina-specific Fbn2 knock-down mouse model [PDF]
Scientific ReportsRui Xue Zhang +11 more
doaj +2 more sources
Frontiers in Genetics, 2023 Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
An-Lei Li +19 more
doaj +1 more source