Results 21 to 30 of about 4,235 (189)

TheFBN2gene: new mutations, locus-specific database (Universal Mutation DatabaseFBN2), and genotype-phenotype correlations [PDF]

Human Mutation, 2008
Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome.
Frédéric, Melissa Yana, Monino, Christine, Marschall, Christoph, Hamroun, Dalil, Faivre, Laurence, Jondeau, Guillaume, Klein, Hanns-Georg, Neumann, Luitgard, Gautier, Elodie, Binquet, Christine, Maslen, Cheryl, Godfrey, Maurice, Gupta, Prateek, Milewicz, Dianna, Boileau, Catherine, Claustres, Mireille, Béroud, Christophe, Collod-Béroud, Gwenaëlle   +17 more
openaire   +4 more sources

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations. [PDF]

Haemophilia
ABSTRACT Background In patients with unexplained bleeding and normal haemostatic parameters, heritable disorders of connective tissue (HDCT) may be an underlying cause due to vascular fragility, as observed in Ehlers–Danlos syndrome (EDS) or Marfan syndrome (MS). This study aims to investigate the molecular profile of patients with joint hypermobility (
Bandini P, Borràs N, Altisent C, Sánchez-Raya J, Martin-Fernandez L, Garcia-Martínez I, Comes N, Ramírez L, Martorell M, Hobeich C, Vidal F, Corrales I.   +11 more
europepmc   +2 more sources

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family

BMC Medical Genomics, 2022
Background Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes.
Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu   +7 more
doaj   +1 more source

Global Gene Expression Analysis Identifies Age-Related Differences in Knee Joint Transcriptome during the Development of Post-Traumatic Osteoarthritis in Mice. [PDF]

, 2020
Aging and injury are two major risk factors for osteoarthritis (OA). Yet, very little is known about how aging and injury interact and contribute to OA pathogenesis.
Christiansen, Blaine A, Hum, Nicholas R, Loots, Gabriela G, McCool, Jillian L, Mendez, Melanie E, Murugesh, Deepa K, Rios-Arce, Naiomy D, Sebastian, Aimy   +7 more
core   +2 more sources

Cancer-Associated Stromal Fibroblast-Derived Transcriptomes Predict Poor Clinical Outcomes and Immunosuppression in Colon Cancer

Pathology and Oncology Research, 2022
Background: Previous studies revealed that colonic cancer-associated fibroblasts (CAFs) are associated with the modulation of the colon tumor microenvironment (TME).
Jie Wang, Rehana Akter, Md. Fahim Shahriar, Md. Nazim Uddin   +3 more
doaj   +1 more source

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly

Molecular Genetics & Genomic Medicine, 2021
Background Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2).
Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang   +6 more
doaj   +1 more source

ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.

PLoS ONE, 2010
BackgroundFibrillins 1 (FBN1) and 2 (FBN2) are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin.
Gaynor Miller, Monica Neilan, Ruth Chia, Nabeia Gheryani, Natalie Holt, Annabelle Charbit, Sara Wells, Valter Tucci, Zuzanne Lalanne, Paul Denny, Elizabeth M C Fisher, Michael Cheeseman, Graham N Askew, T Neil Dear   +13 more
doaj   +1 more source

Proteomic analysis of the bovine and human ciliary zonule [PDF]

, 2016
PURPOSE: The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies ...
Bassnett, Steven, David, Larry L, De Maria, Alicia, Wilmarth, Phillip A   +3 more
core   +2 more sources

A trans-acting protein effect causes severe eye malformation in the Mp mouse.

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, Margaret Keighren, Douglas R Keene, Noe L Charbonneau, Jacqueline K Rainger, Malcolm Fisher, Sebastien Mella, Jeffrey T-J Huang, Lorraine Rose, Rob van't Hof, Lynne Y Sakai, Ian J Jackson, David R Fitzpatrick   +12 more
doaj   +1 more source

A Upf3b-mutant mouse model with behavioral and neurogenesis defects. [PDF]

, 2018
Nonsense-mediated RNA decay (NMD) is a highly conserved and selective RNA degradation pathway that acts on RNAs terminating their reading frames in specific contexts.
Cook-Andersen, H, Dumdie, J, Espinoza, JL, Gecz, J, Huang, L, Jolly, LA, Jones, SH, Kim, H, Lou, C-H, Phan, MH, Roberts, AJ, Shum, EY, Skarbrevik, DM, Swerdlow, NR, Wilkinson, MF   +14 more
core   +1 more source