Results 131 to 140 of about 2,715,906 (243)

Structure and Function of a Multi‐Megadalton Virus‐Like Proteolytic Dodecahedron

Angewandte Chemie, EarlyView.
Zuzalysin, a virulence metallopeptidase of the periodontal pathogen Porphyromonas gingivalis, is secreted as a latent, flexible ≈95‐kDa monomer. Calcium triggers cysteine‐switch activation and hierarchical assembly into pentamers, bipentamers, tripentamers, and a ≈5.6‐MDa, ≈355‐Å dodecahedron. Structures at 1.8–3.6 Å reveal a virus‐sized catalytic cage
Mariusz Madej, Arturo Rodríguez‐Banqueri, Danuta Mizgalska, Borys Szmigielski, Zuzanna Nowakowska, Małgorzata Benedyk‐Machaczka, Monika Bzowska, Katarzyna Mikruta, Juan Sebastián Ramírez‐Larrota, Chinanu Agunanne, Olivier Julien, Anthony J. O'Donoghue, Carsten Scavenius, Mario López‐Martín, Enrique Marcos, Łukasz Koziej, Sebastian Glatt, Pablo Guerra, Ulrich Eckhard, Jan Potempa, F. Xavier Gomis‐Rüth   +20 more
wiley   +2 more sources

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Grapevine gene nomenclature system

, 2013
Póster presentado en la 2nd Annual ConferenceFleshy Fruit Development & Ripening (COST Action FA1106 QualityFruit), celebrada en Chania (Grecia) del 22 al 25 de septiembre de 2013.A major breakthrough in grapevine genomics was achi eved in 2007 with the
Grimplet, Jérôme, Bert, Pierre-François, Bitz, Oliver, Pezzotti, Mario, Cramer, Grant, Delrot, Serge, Adam-Blondon, Anne-Françoise, Rombauts, Stéphane, Cantu, Dario, Davies, Christopher   +9 more
core  

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Harmonized Genome Wide Typing of Tubercle Bacilli Using a Web-Based Gene-By-Gene Nomenclature System. [PDF]

EBioMedicine, 2018
Kohl TA, Harmsen D, Rothgänger J, Walker T, Diel R, Niemann S.   +5 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Guidelines for gene nomenclature in ruminants 1991

Genetics Selection Evolution, 1991
Millar P, Malher X, Levéziel H, Lauvergne JJ, Larsen B, Huston K, Hill D, Dolling CHS, Stasio L Di, Broad T, Andresen E, Rae AL, Renieri C, Tucker EM   +13 more
doaj   +1 more source

A call for unified use of human aminoacyl-tRNA synthetase (ARS) gene nomenclature. [PDF]

FEBS Lett
Antonellis A, Barrientos M, Bensasson E, DeClercq T, Garrigós P, Heilmann R, Horvath R, Magee D, Moresco A, Rowland A, Vallee I, Alexander R, Cui H, Gruić-Sovulj I, Hendrickson TL, Kim S, Ling J, Martinis SA, Musier-Forsyth K, Yang XL, Heinemann IU, Ribas de Pouplana L.   +21 more
europepmc   +1 more source

The Naming of Names: Guidelines for Gene Nomenclature in Marchantia. [PDF]

Plant Cell Physiol, 2016
Bowman JL, Araki T, Arteaga-Vazquez MA, Berger F, Dolan L, Haseloff J, Ishizaki K, Kyozuka J, Lin SS, Nagasaki H, Nakagami H, Nakajima K, Nakamura Y, Ohashi-Ito K, Sawa S, Shimamura M, Solano R, Tsukaya H, Ueda T, Watanabe Y, Yamato KT, Zachgo S, Kohchi T.   +22 more
europepmc   +1 more source