Results 41 to 50 of about 6,527,208 (145)

Identification and Functional Characterization of P159L Mutation in in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5) [PDF]

Genomics & Informatics, 2014
Mutation in HNF1B, the hepatocyte nuclear factor-1β (HNF-1β) gene, results in maturity-onset diabetes of the young (MODY) 5, which is characterized by gradual impairment of insulin secretion.
Eun Ky Kim, Ji Seon Lee, Hae Il Cheong, Sung Soo Chung, Soo Heon Kwak, Kyong Soo Park   +5 more
doaj   +1 more source

Site-specific gene correction of a point mutation in human iPS cells derived from an adult patient with sickle cell disease.

Blood, 2011
Human induced pluripotent stem cells (iPSCs) bearing monogenic mutations have great potential for modeling disease phenotypes, screening candidate drugs, and cell replacement therapy provided the underlying disease-causing mutation can be corrected. Here,
J. Zou, P. Mali, Xiaosong Huang, Sarah N. Dowey, Linzhao Cheng   +4 more
semanticscholar   +1 more source

Study of an association between SNP 775C>T within the bovine ITBG2 gene and milk performance traits in Black and White cows

Czech Journal of Animal Science, 2007
The exclusive pre-selective effect of BLAD carriers reproducing in the exposed Holstein-Friesian cattle population prompted to search for the candidate gene variants of high quality of milk performance traits within the bovine ITBG2 gene or loci linked ...
U. Czarnik, M. Galiński, Ch.S. Pareek, T. Zabolewicz, Z. Wielgosz-Groth   +4 more
doaj   +1 more source

Sequence analysis of bla _CTX-M-28 , an ESBL responsible for third-generation cephalosporin resistance in Enterobacteriaceae, for the first time in India

Indian Journal of Pathology and Microbiology, 2008
The most common group of ESBLs not belonging to the bla TEM or bla SHV families were termed bla CTX-M , to highlight their ESBLs′ greater activity against cefotaxime than against ceftazidime.
Kingsley Jemima, Verghese Susan
doaj  

Production of Esters in Escherichia coli Using Citrate Synthase Variants

Microorganisms
Acetate esters comprise a wide range of products including fragrances and industrial solvents. Biosynthesis of esters offers a promising alternative to chemical synthesis because such routes use renewable carbohydrate resources and minimize the ...
Jacoby C. Shipmon, Pasupathi Rathinasabapathi, Michael L. Broich, Hemansi, Mark A. Eiteman   +4 more
doaj   +1 more source

Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder.

Proceedings of the National Academy of Sciences of the United States of America, 1995
Both stem cells and mast cells express c-kit and proliferate after exposure to c-kit ligand. Mutations in c-kit may enhance or interfere with the ability of c-kit receptor to initiate the intracellular pathways resulting in cell proliferation.
H. Nagata, A. Worobec, C. Oh, B. A. Chowdhury, S. Tannenbaum, Yoshifumi Suzuki, D. Metcalfe   +6 more
semanticscholar   +1 more source

Functional Characterization of the Arabidopsis Ammonium Transporter AtAMT1;3 With the Emphasis on Structural Determinants of Substrate Binding and Permeation Properties

Frontiers in Plant Science, 2020
AtAMT1;3 is a major contributor to high-affinity ammonium uptake in Arabidopsis roots. Using a stable electrophysiological recording strategy, we demonstrate in Xenopus laevis oocytes that AtAMT1;3 functions as a typical high-affinity NH4+ uniporter ...
Dong-Li Hao, Shun-Ying Yang, Shu-Xia Liu, Jin-Yan Zhou, Ya-Nan Huang, Anne-Aliénor Véry, Hervé Sentenac, Yan-Hua Su   +7 more
doaj   +1 more source

Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia

Disease Models & Mechanisms, 2020
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN).
Daniel Fil, Balu K. Chacko, Robbie Conley, Xiaosen Ouyang, Jianhua Zhang, Victor M. Darley-Usmar, Aamir R. Zuberi, Cathleen M. Lutz, Marek Napierala, Jill S. Napierala   +9 more
doaj   +1 more source

A CFTR potentiator in patients with cystic fibrosis and the G551D mutation.

New England Journal of Medicine, 2011
BACKGROUND Increasing the activity of defective cystic fibrosis transmembrane conductance regulator (CFTR) protein is a potential treatment for cystic fibrosis.
N. England, M. Bonnie W. Ramsey, M. Jane Davies, N. G. M. Ch.B., Elizabeth Tullis M.D., M. S. C. Bell, Pavel D ř evínek M.D., Matthias Griese M.D., Edward F. McKone M.D., M. C. E. Wainwright, Michael W. Konstan B.S., Richard Moss M.D., Felix Ratjen M.D., Ph. Isabelle Sermet-Gaudelus, Steven M. Rowe Ph.D., Qunming Dong M.S.P.H., Sally Rodriguez Ph.D., M. K. Yen, Claudia Ordoñez M.D., M. J. S. Elborn   +19 more
semanticscholar   +1 more source

Relics of repeat-induced point mutation direct heterochromatin formation in Neurospora crassa.

Genome Research, 2009
Both RNAi-dependent and -independent mechanisms have been implicated in the establishment of heterochromatin domains, which may be stabilized by feedback loops involving chromatin proteins and modifications of histones and DNA.
Zachary A. Lewis, S. Honda, Tamir K. Khlafallah, Jennifer K. Jeffress, M. Freitag, Fabio Mohn, D. Schübeler, E. Selker   +7 more
semanticscholar   +1 more source