Results 101 to 110 of about 2,855 (182)

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
doaj   +1 more source

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
core   +1 more source

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

, 2009
International audienceApproximately half of gene lesions responsible for human inherited diseases are due to an amino acid substitution, showing that this mutational mechanism plays a large role in diseases.
Boileau, Catherine, Claustres, Mireille, Béroud, Christophe, Frédéric, Mélissa Yana, Hamroun, Dalil, Lalande, Marine, Collod-Béroud, Gwenaëlle   +6 more
core   +1 more source

FBN2 wt Allele [PDF]

, 2020
openaire   +1 more source

Muscle architecture and forelimb fat at P8.

, 2015
(A) H&E stained cross sections of wildtype and Fbn2 null forearms at P8 (left) and quantitation of percentages of myofibers with central nuclei (right). Quantitation was performed as in 1C and 1D.
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
core   +1 more source

Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report

BMC Pediatrics
Background Familial exudative vitreoretinopathy (FEVR) is an inherited disorder of retinal vascularization insufficiency caused primarily by genetic mutations. So far, FEVR has been less reported in the Chinese population.
Yanan Wang, Yujie Chang, Hongtao Lei, Weiyan Yan, Yuqiong Chai, Weiwei Zang   +5 more
doaj   +1 more source

Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients

npj Genomic Medicine
Vincristine-induced peripheral neuropathy is a common and highly debilitating toxicity from vincristine treatment that affects quality of life and often requires dose reduction, potentially affecting survival.
Kheireddin Mufti, Miguel Cordova, Erika N. Scott, Jessica N. Trueman, Jessica M. Lovnicki, Catrina M. Loucks, Shahrad R. Rassekh, Colin J. D. Ross, Bruce C. Carleton, On behalf of the Canadian Pharmacogenomics Network for Drug Safety Consortium   +9 more
doaj   +1 more source

Powdery mildew exploits host plastoglobuli functions via DGAT3 and FBN2 for proliferation

SUMMARY Plastoglobuli (PG) are specialized lipid-containing compartments attached to thylakoid membranes within chloroplasts. PGs participate in various metabolic pathways in response to environmental stresses such as high light, nitrogen deficiency, and heat stress.
Hang Xue, Catalina Kemmer, Emma H. Choi, Masakazu Iwai, Krishna K. Niyogi, Mary C. Wildermuth   +5 more
openaire   +1 more source

Koiran lonkkanivelen kasvuhäiriön perinnöllisyys : Fibrilliini 2 -variantti neljällä koirarodulla

, 2019
Lonkkanivelen kasvuhäiriö on koirien yleisin tuki- ja liikuntaelimistön kehityshäiriö, jota esiintyy etenkin suurikokoisilla koirilla. Se voidaan määritellä perinnölliseksi lonkkanivelen löysyydeksi, jonka seurauksena lonkkamalja ei kehity normaalisti ...
Holopainen, Saila
core