Results 111 to 120 of about 2,273 (178)

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation [PDF]

, 2014
Glutaric acidemia type I (GA-I) is a treatable autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. Presentation and progression of disease are variable ranging from asymptomatic carrier state to catastrophic encephalopathy.
M J, Fraidakis, C, Liadinioti, L, Stefanis, A, Dinopoulos, R, Pons, M, Papathanassiou, J, Garcia-Villoria, A, Ribes   +7 more
openaire   +2 more sources

BIBLINDEX, index en ligne des références scripturaires chez les Pères de l’Eglise : bilan et perspectives. [PDF]

, 2013
International audienceBIBLINDEX a pour objectif la constitution d'un index exhaustif, en ligne, des citations et allusions bibliques présentes dans les textes chrétiens, occidentaux et orientaux, de l'Antiquité tardive et de ses prolongements médiévaux ...
Mellerin, Laurence
core   +1 more source

Cosmology and Brane Worlds: A Review

, 2003
Cosmological consequences of the brane world scenario are reviewed in a pedagogical manner. According to the brane world idea, the standard model particles are confined on a hyper--surface (a so--called brane), which is embedded in a higher--dimensional ...
Akama K, Anchordoqui L, Bardeen J M, Binetruy P, Bowcock P, Brandenberger R, Brax Ph, Brax Ph, Brax Ph, Brax Ph, Brax Ph, Carsten van de Bruck, Cartier C, Charmousis C, Charmousis C, Chiba T, Chiba T, Cline J M, Csaki C, Csaki C, Cynolter G, Damour T, Damour T, Davis S C, Davis S C, Deruelle N, DeWolfe O, Dorca M, Emparan R, Emparan R, Enqvist K, Flanagan E E, Fujii Y, Garriga J, Gen U, Gibbons G W, Goldberger W D, Gorbunov D S, Gravanis E, Hawking S W, Ida D, Israel W, Israel W, Kaluza T, Kanno S, Kanti P, Kiritsis E, Klein O, Kobayashi S, Kodama H, Koyama K, Koyama K, Kraus P, Langlois D, Langlois D, Liddle A R, Lukas A, Lukas A, Lukas A, Lukas A, Lukas A, Maartens R, Maartens R, Maartens R, Maartens R, Maeda K, Mennim A, Mohapatra R N, Mukohyama S, Mukohymama S, Neronov A, Ovrut B A, Philippe Brax, Polchinski J, Quevedo F, Randall L, Randall L, Riazuelo A, Shiromizu T, Shiromizu T, Tanaka T, Tetradis N, Uzan J-P, van de Bruck C, van de Bruck C, Verlinde E, Wald R, Wands D, Wands D, Wang B, Wiseman T, Witten E, Witten E, Youm D   +93 more
core   +2 more sources

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Journal of Pediatric Research, 2018
Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues ...
Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok, Hepsen Mine Serin, Sara Habif, Gül Serdaroğlu, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker   +11 more
doaj   +1 more source

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient

Iranian Biomedical Journal, 2020
Background: Glutaric acidemia (GAI) and mucopolysaccharidosis type IIIB (MPSIIIB) are two rare genetic disorders caused by pathogenic variants in two different genes.
Mohammad Reza Alaei, Meghdad Kheirkhahan, Saeed Talebi, Elham Davoudi-Dehaghani, Mohammad Keramatipour   +4 more
doaj  

Strongly secure certificateless one-pass authenticated key agreement scheme

Kuwait Journal of Science, 2015
As certificateless public key cryptography (CLPKC) could solve the problem of keyescrow, recently it has been studied more and more. Certificateless authenticated keyagreement (CLAKA), as an important part of the CLPKC, also attracts ...
BAOJUN HUANG, HANG TU
doaj  

Livre universitaire numérique en sciences humaines et sociales : pour un foyer d’expertise et une infrastructure de stature mondiale (Le) [PDF]

Au moment où le numérique occupe de plus en plus d’espace dans la communication scientifique, il est utile de s’interroger sur la capacité d’implantation (formes organisationnelles et modèles d’affaires) d’un système de publication numérique issu de la ...
Boismenu, Gérard, Boucher, Martin, Eberle-Sinatra, Michael, Emilie, Paquin, Forest, Dominic   +4 more
core   +1 more source

Interplay of YEATS2 and GCDH mediates histone crotonylation and drives EMT in head and neck cancer

Abstract The regulation of gene expression is an integral cellular process orchestrated by epigenetic marks like histone modifications. Perturbations in the activity or abundance of epigenetic factors can lead to tumorigenesis. Remarkably, several metabolites influence the epigenetic landscape in cells.
Deepak Pant, Parik Kakani, Rushikesh Joshi, Shruti Agrawal, Atul Samaiya, Sanjeev Shukla   +5 more
openaire   +1 more source

Allozyme comparison of two populations of Rineloricaria (Siluriformes, Loricariidae) from the Ivaí River, upper Paraná River basin, Brazil

Genetics and Molecular Biology, 2009
Two allopatric morphotypes of the genus Rinelocaria were compared through the allozyme electrophoresis technique: one morphotype, R. pentamaculata, from the Keller River in the middle stretch of the Ivaí River basin and the other, R. aff.
Daniel M. Limeira, Erasmo Renesto, Cláudio H. Zawadzki   +2 more
doaj  

GCDH Mediates Histone Crotonylation to Regulate GLS1 Expression and Promote Reprogramming of Glutamine Metabolism in Breast Cancer

Background: Metabolic remodeling plays critical role in cancer development and targeting the glutamine metabolism is a promising strategy for cancer therapy. Histone crotonylation is a novel histone modification that has been confirmed to play roles in multiple physiological and pathological processes, making it a hot topic and frontier area of ...
Jia-Nan Zhang, Meng-Sha Zou
openaire   +1 more source