Results 101 to 110 of about 2,722 (177)

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

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

FBN2 wt Allele [PDF]

, 2020
openaire   +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

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

Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome. [PDF]

JACC Basic Transl Sci
De Rycke K, Horvat M, Caboor L, Vermassen P, De Smet G, Lobbestael S, Santana Silva M, Steyaert W, Van Impe M, Segers P, De Backer J, Sips P.   +11 more
europepmc   +1 more source

A Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report. [PDF]

Cureus
Purvez A, Mir A, Bashir M.
europepmc   +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  

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

Differential regulation of myopia progression by ON and OFF stimulation in guinea pigs. [PDF]

Eye Vis (Lond)
Xie Q, Dai Q, Zhu X, Chen X, Shen B, Fang Y, Li X, Lu F, Zhou X, Wang M.   +9 more
europepmc   +1 more source