Results 91 to 100 of about 2,855 (182)

FIBRILLINS IN TENDON

Frontiers in Aging Neuroscience, 2016
Tendons among connective tissue, mainly collagen, contain also elastic fibres made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon.
Betti Giusti, Guglielmina Pepe
doaj   +1 more source

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

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
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Mp mapped to a balanced 660 kb inversion on chromosome 18 disrupting Fbn2 and Isoc1.

, 2013
(A) Haplotype analysis using DNA samples from 3rd backcross (from parental strain C3H onto C57BL/6J) Mp/+ animals (n = 43) for four microsatellite markers on chromosome 18 revealed there had been no meiotic recombination events between markers D18MIT74 ...
Douglas R. Keene (46430), Ian J. Jackson (215017), Margaret Keighren (256970), Noe L. Charbonneau (189257), Malcolm Fisher (62940), Jeffrey T-J. Huang (496763), Sebastien Mella (5651503), Jacqueline K. Rainger (496762), Rob van't Hof (190792), Joe Rainger (214922), Lorraine Rose (496764), Lynne Y. Sakai (496765), David R. FitzPatrick (215024)   +12 more
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Table1_Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly.docx

, 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
Jie-Yuan Jin (8888750), Ji-Qiang He (8888756), Lei Zeng (254605), Rong Xiang (164808), An-Lei Li (14712388), Min Wang (21070), Yi-Qiao Hu (3474653), Jie-Yi Long (14712391), Si-Hua Chang (14712394)   +8 more
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Assessing the impact of storage conditions on RNA from human saliva and its application to the identification of mRNA biomarkers for asthma

Frontiers in Molecular Biosciences
Introduction: Human saliva was used to develop non-invasive liquid biopsy biomarkers to establish saliva as an alternate to blood and plasma in translational research.
Poorna Manasa Bhamidimarri, David Fuentes, Laila Salameh, Laila Salameh, Bassam Mahboub, Bassam Mahboub, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi   +10 more
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Promoter dna methylation analysis of fbn2, sim1 and tac1 genes in renal cancer. [PDF]

, 2019
Renal cell carcinoma (RCC) is the most lethal neoplastic disease of the urinary system and represents 2-3% of all cancers in adults with clear cell RCC as predominant subtype.
Ganža, Jevgenij,
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Arabidopsis fibrillin 1-2 subfamily members exert their functions via specific protein–protein interactions

, 2022
Fibrillins (FBNs) are plastidial proteins found in photosynthetic organisms from cyanobacteria to higher plants. The function of most FBNs remains unknown. Here, we focused on members of the FBN subgroup comprising FBN1a, FBN1b, and FBN2.
Serrato, A. J., Torres Romero, Diego, Merida, A., Sahrawy, M., Gomez-Zambrano, A.   +4 more
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Effects of genetic ablation of one allele of Bmp7 on Fbn2 null forearm muscle and fat.

, 2015
(A) Series of sections (numbered at the top) generated by micro-CT of forearms from Fbn2-/-;Bmp7+/- mice (compare with Fig 2D). (B) Quantitation of percentages of muscle and fat across the genotypes.
Francesco Ramirez (22223), Valerie Carlberg (761367), Eric J. Carlson (189254), Douglas R. Keene (46430), Lynn Y. Sakai (189267), Sara F. Tufa (189251), Noe L. Charbonneau (189257), Silvia Smaldone (22222), Gerhard Sengle (189245)   +8 more
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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
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Evaluation of a fibrillin 2 gene haplotype associated with hip dysplasia and incipient osteoarthritis in dogs

, 2011
Objective—To determine whether a mutation in the fibrillin 2 gene (FBN2) is associated with canine hip dysplasia (CHD) and osteoarthritis in dogs. Animals—-1,551 dogs. Procedures—Hip conformation was measured radiographically. The FBN2 was sequenced from
Linda S. Hunter, Stuart P. Bliss, Sean P. McDonough, Margaret Vernier-Singer, Steven G. Friedenberg, Ursula Krotscheck, Xihui Sheng, Nathan L. Dykes, Patricia J. Fisher, Peter A. Schweitzer, George Lust, Seung-Woo Jung, Elizabeth Corey, Zhiwu Zhang, Wendy van den Berg Foels, Wei Wang, Teresa M. Gunn, Rory J. Todhunter, Lan Zhu   +18 more
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