Results 91 to 100 of about 2,722 (177)

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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Mutation Analysis of Fibrillin-2 (FBN2) and Microfibril Associated Protein-3 (MFAP-3): Two Genes Associated with Congenital Contractural Arachnodactyly (CCA), also known as Beal\u27s Syndrome

, 1996
Congenital Contractural Arachnodactyly (CCA), also known as Beal\u27s syndrome, is an autosomal dominant disorder characterized by multiple congenital joint contractures, arachnodactyly, dolichostenomelia, and scoliosis with only rare ocular or ...
Babcock, Darcie
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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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Marfan Syndrome, A Review

Journal of Biomedicine and Translational Research, 2018
Marfan syndrome is named after the French pediatrician Antoine Bernard-Jean Marfan who described in 1896 a girl with arachnodactyly and long limbs1. The patient also had congenital contractures of the elbows and would not fulfill the current criteria for
Gerard Pals
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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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Tenascin-C-Matrix Metalloproteinase-3 Phenotype and the Risk of Tendinopathy in High-Performance Athletes: A Case–Control Study

Diagnostics
Background/Objectives: Tendon structure is predominantly composed of the extracellular matrix (ECM), and genetic variants in non-collagenous ECM components may influence susceptibility to tendinopathy.
Lucas Rafael Lopes, Marcus Vinícius Galvão Amaral, Rodrigo Araujo Goes, Valéria Tavares, Francisca Dias, Rui Medeiros, Daniel Escorsim Machado, Jamila Alessandra Perini   +7 more
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Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

, 2008
Contains fulltext : 81654.pdf (Publisher’s version ) (Closed access)Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears ...
Magnus Landgren, De Paepe, Anne M., Hester Y. Kroes, Michael Pope, Kingston, Helen, De Paepe, Anne, Anna Ficcadenti, Orazio Gabrielli, De Backer, Julie, Francisco Galán, Kroes, Hester Y, Callewaert, Bert L., Landgren, M., Callewaert, Bert, Loeys, Bart, LOEYS BL, Marielle E. Swinkels, Bart L. Loeys, Helen Kingston, Gabreilli, Orazio, Nathalie Van der Aa, Loeys, B.L., Salcedo, I., Coucke, Paul J., FICCADENTI A, Paepe, A.M. De, Foulds, N., Yaron, Y., Pope, M., Ficcadenti, Anna, Sascha Vermeer, Swinkels, M.E., Backer, J. de, Paul J. Coucke, Vermeer, S., Pope, Michael, Van der Aa, Nathalie, Loeys, Bart L., Landgren, Magnus, Swinkels, Marielle E., Carina Wallgren-Pettersson, Iratxe Salcedo, Kroes, H.Y., Boute, O., CALLEWAERT BL, Odile Boute, Aa, N. van der, Nicola Foulds, Swinkels, Marielle E, Bert L. Callewaert, Foulds, Nicola, Gabrielli, Orazio, Kingston, H., Callewaert, B.L., Wallgren-Pettersson, Carina, Ficcadenti, A., Galan, F., Gabrielli, O., Yuval Yaron, Anne M. De Paepe, Kroes, Hester Y., Coucke, Paul, Coucke, P.J., Boute, Odile, Salcedo, Iratxe, Julie De Backer, Galán, Francisco, Vermeer, Sascha, Yaron, Yuval, Wallgren-Pettersson, C.   +69 more
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Myosin heavy chain 8, a perinatal myosin, in Fbn2 null forelimb muscle and in C2C12 cultures.

, 2015
(A) Pepsin-resistant fragments extracted from P0 –P8 forelimb muscles, visualized after Ponceau staining (top) and immunoblotting with anti-fibrillin-1 (bottom). Asterisk indicates pepsin-resistant fibrillin-1 fragment.
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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Fibrillin-2^Mp aggregated into large intracellular inclusions within the rough endoplasmic reticulum.

, 2013
(A–B) Whole Mount In Situ Hybridisation to Fbn2 using antisense 3′-UTR riboprobes of Fbn2 for Wt and Isoc1 for Mp/Mp in early Wt and Mp/Mp embryos (E11.5) revealed the spaciotemporal expression of the variant Fbn2 alleles appeared unaffected by the ...
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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Promoter dna methylation analysis of fbn2, sim1 and tac1 genes in renal cancer.

, 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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