Results 91 to 100 of about 2,696 (156)

Molecular studies of adrenoleukodystrophy and Emery-Dreifuss muscular dystrophy

, 1998
Full text is available to authenticated members of The University of Auckland only.The terminal cytogenetic band of the human X chromosome, Xq28, has been intensively studied by human geneticists because of the high gene density of this region.
Hawkes, Sheryl Louise Joy
core  

Both emerin and lamin C depend on lamin A for localization at the nuclear envelope [PDF]

, 2001
Physical interactions between lamins and emerin were investigated by co-immunoprecipitation of in vitro translated proteins. Emerin interacted with in vitro translated lamins A, B1 and C in co-immunprecipitation reactions.
Whitfield, WGF, Vaughan, A, Hutchison, CJ, Wehnert, M, Bridger, JM, Morris, GE, Broers, JL, Raemakers, FC, Alvarez-Reyes, M   +8 more
core  

ACTIVITATEA ANTIOXIDANTĂ A UNOR COMPUŞI DIN PRODUSE SECUNDARE VINICOLE LA REDUCEREA NITRITULUI

Studia Universitatis Moldaviae: Stiinte reale si ale naturii, 2007
In the stomach, the dietary nitrite reacts with the nitrosable substrates (amines, amides, etc.) forming carcinogenic N-nitroso compounds. The process of inhibition of NOC formation is based on the reduction of the nitrite to NO, which is not a direct ...
USM ADMIN
doaj  

Muscular dystrophy-associated lamin variants disrupt cellular organization through a nucleolar-ribosomal axis. [PDF]

Sci Adv
Ding X, Kumari S, F Gregory E, Starr DA, Luxton GWG.   +4 more
europepmc   +1 more source

Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy, Dunnigan variety due to heterozygous <i>LMNA</i> variants. [PDF]

J Endocr Soc
Anum, Li X, Brown RJ, Garg A.
europepmc   +1 more source

Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy, from Arrhythmias to Heart Failure and Sudden Death: A Contemporary Review. [PDF]

J Clin Med
Granata LG, Lo Nigro MC, Cipolla F, Ferrara N, Napoli AR, Marchetta M, Giubilato S, Crea P, Dattilo G, Trio O, Andò G, Gregorio C, Francese GM.   +12 more
europepmc   +1 more source

Emerin evaluation in Emery-Dreifuss muscular dystrophy patients

, 1997
The diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD) is now normally confirmed by genetic analysis of the recently discovered STA gene which codes for the protein emerin.
Toniolo D, Barresi R, Bione S, Mora, Di Blasi C, Bernasconi P, Cobianchi F, M, Cartegni L, Morandi L, Cornelio F   +10 more
core  

Adversarial dynamical systems characterize when data-driven learning succeeds or fails. [PDF]

Nat Commun
Colbrook MJ, Mezić I, Stepanenko A.
europepmc   +1 more source

Investigating the pathology of Emery-Dreifuss muscular dystrophy

EDMD (Emery-Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C (LMNA) located at 1q21.2-q21.3 of emerin (EMD) located at Xq28.
Piercy, R J, Sewry, C A, Imperial College London, Muntoni, F, Brown, S C, UCL   +5 more
core   +1 more source

Twenty-Five-Year Follow-Up of the MDDC1 Family: A <i>LMNA</i> Gene Variant Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement. [PDF]

Circ Genom Precis Med
Capovilla TM, Iseppi M, Distaso S, Gigli M, Dal Ferro M, Moretti M, Iorio A, Mancinelli A, Merlo M, Mestroni L, Paldino A, Sinagra G.   +11 more
europepmc   +1 more source