Results 161 to 170 of about 9,256,185 (298)

X-linked hereditary periventricular nodular heterotopia

Neurología (English Edition), 2022
M. Angulo-Maldonado, O. Lara-Sarabia, A. Cadena-Bonfanti, A. Ulloa-Piza   +3 more
doaj   +1 more source

X-linked myotubular myopathy, liver disease, and gene therapy. [PDF]

J Neuromuscul Dis
Pannia E, Karolczak S, Stine R, Dowling JJ.   +3 more
europepmc   +1 more source

Guiding AlphaFold to predict how Munc13‐1 opens Syntaxin‐1

FEBS Open Bio, EarlyView.
The syntaxin‐1 Habc‐domain (orange), linker (pink) and SNARE motif (yellow) form a closed conformation that binds to Munc18‐1 (violet) and is opened by the Munc13‐1 MUN domain (cyan) to form the SNARE complex that triggers neurotransmitter release.
Madhurima Chattopadhyay, Junjie Xu, Josep Rizo   +2 more
wiley   +1 more source

Expanded Umbilical Cord Blood Transplantation in Cerebral X-Linked Adrenoleukodystrophy: A Case Report. [PDF]

EJHaem
Granberg RE, Pfeiffer T, Sansar S, Galindo R, Shenoy S.   +4 more
europepmc   +1 more source

Linking Cultural Heritage Information

, 2013
This LO focuses on the current structure of the Linked data Cloud - the best known representation of linked data. Size, licenses, subjects… all the informations were extracted from the analysis made by Linking cultural heritage information, the 2nd Work ...
Centro di Ateneo per le Biblioteche, Università di Padova, Linked Heritage Consortium, Linked Heritage WP7 "Dissemination & Training"   +2 more
core  

Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes

FEBS Open Bio, EarlyView.
Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard, Emma‐Jayne Proctor, Jiawa Wang, Nikolas P. Johnston, Andrew Hayes, Georgia McCorkell, Haibo Yu, Jai Tree, Mark R. Davies, Mark J. Walker, Ronald Sluyter, Stephan Brouwer, Martina L. Sanderson‐Smith   +12 more
wiley   +1 more source

Longitudinal Clinical Progression in X-Linked Adrenoleukodystrophy: The AMNL Scoring System. [PDF]

Ann Child Neurol Soc
Kabak EG, Videbaek C, Voermans MMC, van Geel BM, van Haren K, Kemp S, van de Beek D, Engelen M.   +7 more
europepmc   +1 more source

Transcripts enriched in codons that trigger P‐site tRNA‐mediated mRNA decay possess stable mRNA

FEBS Open Bio, EarlyView.
PTMD codons were first described by Mendel et al. as mediators of an mRNA decay pathway dependent on the human protein CNOT3, homologous to yeast Not5. Our findings confirm that PTMD codons destabilize transcripts; however, unlike in yeast, the human pathway specifically targets and slightly destabilizes primarily stable mRNAs.
Rodolfo Lopes Carneiro, Fernando Lucas Palhano   +1 more
wiley   +1 more source

Reduced expression of Brain Expressed X-linked genes in Alzheimer's disease. [PDF]

J Alzheimers Dis
Li L, Kenner E, Wan L, Yan Z, Feng J.
europepmc   +1 more source

Is X-linked Recessive Ichthyosis a High Risk for Basal Cell Carcinoma? [PDF]

We report a case of X-linked recessive ichthyosis with basal cell carcinoma. An 86-year-old man was referred to our department for evaluation of a 1-year history of an ulcer on his left leg.
70335975, 16872, 16871, Wakumoto, Keiko, Yoshida, Yuichi, 4524, Yamamoto, Osamu, 100000284   +7 more
core