Results 21 to 30 of about 2,722 (177)

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, 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   +2 more sources

Oestrogen receptor phosphorylation profiles and in silico PAM50 subtyping reflect sexual dimorphism in breast cancer. [PDF]

J Pathol Clin Res
Abstract 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, Diack A, Szostok M, Morgan MD, Silvestri V, Ottini L, Moelans CB, van Diest PJ, Selli C, Sims AH, Abu-Eid R, Speirs V.   +11 more
europepmc   +2 more sources

Methylation of CLDN6, FBN2, RBP1, RBP4, TFP12, and TMEFF2 in esophageal squamous cell carcinoma [PDF]

Oncology Reports, 2009
In the development and progression of cancer, tumor suppressor genes may be silenced by mechanisms such as methylation. Thus the discovery of new genes silenced by methylation may uncover new tumor suppressor genes, and improve our understanding of ...
Tian, Zi-Qing, Drew, P., Tsunoda, Shigeru, Jamieson, Glyn G, Tian, Z., Jamieson, G., Tsunoda, S., Smith, Eric, Liu, Jun-Feng, Drew, Paul Anthony, Wang, X., Liu, J., Wang, Xian, Smith, E., De Young, N., De Young, Neville J   +15 more
core   +5 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

Screening and expression validation of key proteins for secondary hair follicle growth in cashmere goats based on iTRAQ quantitative proteomics technology [PDF]

Frontiers in Veterinary Science
BackgroundThe growth of secondary hair follicles (SHFs) in cashmere goats has periodic changes, including telogen, anagen, and catagen, during which proteins play important roles as the executor of life activities.ResultsIn this study, the skin tissues ...
Jiale Chang, Jiale Chang, Fanhua Meng, Fanhua Meng, Ru Zhang, Ru Zhang, Juan Feng, Juan Feng, Yujing Liu, Yujing Liu, Junjie Zhang, Junjie Zhang, Zhaomin Liu, Zhaomin Liu, Jiayue Liang, Hongmei Xiao, Hongmei Xiao   +16 more
doaj   +2 more sources

Analysis of mRNA expression of CNN3, DCN, FBN2, POSTN, SPARC and YWHAQ genes in porcine foetal and adult skeletal muscles

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, A. Knoll, A. Stratil, K. Svobodová, P. Horák, R. Bechyňová, M. Van Poucke, L.J. Peelman   +7 more
doaj   +2 more sources

Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families

Journal of Medical Genetics
BACKGROUND: Fibrillinopathies comprise allelic disorders with opposing phenotypes. Pathogenic variants in fibrillin-2, encoded by FBN2, have mainly been associated with congenital contractural arachnodactyly but in a few cases also with brachydactyly ...
Wang, Fan,, Lennartsson, Otto,, Nilsson, Ola,, Mäkitie, Outi,, Muurinen, Mari,, Loid, Petra,, Vats, Sakshi,, Costantini, Alice,, Lodefalk, Maria,   +8 more
core   +4 more sources

FBN2 Gene [PDF]

, 2020

core   +2 more sources

Author Correction: Intravitreal injection of fibrillin 2 (Fbn2) recombinant protein for therapy of retinopathy in a retina-specific Fbn2 knock-down mouse model

Scientific Reports, 2023
Rui Xue Zhang, Ying Wen, Da Dong Guo, Fu Ru Xu, Gui Min Wang, Xing Rong Wang, Yong Wei Shi, Jie Ding, Qian Jiang, Wen Jun Jiang, Jost B. Jonas, Hong Sheng Bi   +11 more
doaj   +2 more sources

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

PLoS ONE, 2016
Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.
Hao Deng, Qian Lu, Hongbo Xu, Xiong Deng, Lamei Yuan, Zhijian Yang, Yi Guo, Qiongfen Lin, Jingjing Xiao, Liping Guan, Zhi Song   +10 more
doaj   +2 more sources