Results 31 to 40 of about 1,239,617 (330)

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

Interplay Between Capsule Expression and Uracil Metabolism in Streptococcus pneumoniae D39

Frontiers in Microbiology, 2018
Pyrimidine nucleotides play an important role in the biosynthesis of activated nucleotide sugars (NDP-sugars). NDP-sugars are the precursors of structural polysaccharides in bacteria, including capsule, which is a major virulence factor of the human ...
Sandra M. Carvalho, Tomas G. Kloosterman, Irfan Manzoor, José Caldas, Susana Vinga, Jan Martinussen, Lígia M. Saraiva, Oscar P. Kuipers, Ana R. Neves   +8 more
doaj   +1 more source

8-oxoguanine causes spontaneous de novo germline mutations in mice. [PDF]

, 2014
Spontaneous germline mutations generate genetic diversity in populations of sexually reproductive organisms, and are thus regarded as a driving force of evolution. However, the cause and mechanism remain unclear.
Hokama, Masaaki, 福村, 龍太郎, 古市, 正人, 續, 輝久, 池村, 淑道, 外間, 政朗, 権藤, 洋一, Fukumura, Ryutaro, Nakabeppu, Yusaku, 大野, みずき, Furuichi, Masato, Ikemura, Toshimichi, Gondo, Yoichi, Sakumi, Kunihiko, Ohno, Mizuki, Ono, Mizuki, Tsuzuki, Teruhisa, 作見, 邦彦, 中別府, 雄作, 岩﨑, 裕貴, Iwasaki, Yuki   +20 more
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Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy [PDF]

, 2011
Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy. INTRODUCTION Autosomal recessive (AR) spinocerebellar ataxias constitute a heterogeneous group of neurodegenerative disorders mainly characterized by ...
De Leva, Maria Fulvia
core   +1 more source

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) [PDF]

, 2010
Context: Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function.
Miller, W. L., Lang-Muritano, M., Soccio, R. E., Miller, W L, Sahakitrungruang, T, Walker, J. M., Miller, WL, Walker, J M, Achermann, J. C., Achermann, JC, Lang-Muritano, M, Sahakitrungruang, T., Achermann, J C, Walker, JM, Soccio, R E, Soccio, RE   +15 more
core   +1 more source

Experimental evolution of gene essentiality in bacteria

mBio
Essential gene products carry out fundamental cellular activities in interaction with other components. However, the lack of essential gene mutants and appropriate methodologies to link essential gene functions with their partners poses significant ...
Liang Bao, Zan Zhu, Ahmed Ismail, Bin Zhu, Vysakh Anandan, Marvin Whiteley, Todd Kitten, Ping Xu   +7 more
doaj   +1 more source

Molecular Clock of Neutral Mutations in a Fitness-Increasing Evolutionary Process. [PDF]

PLoS Genetics, 2015
The molecular clock of neutral mutations, which represents linear mutation fixation over generations, is theoretically explained by genetic drift in fitness-steady evolution or hitchhiking in adaptive evolution.
Toshihiko Kishimoto, Bei-Wen Ying, Saburo Tsuru, Leo Iijima, Shingo Suzuki, Tomomi Hashimoto, Ayana Oyake, Hisaka Kobayashi, Yuki Someya, Dai Narisawa, Tetsuya Yomo   +10 more
doaj   +1 more source

Autoimmunity as the Consequence of a Spontaneous Mutation in Rasgrp1 [PDF]

Immunity, 2012
A mouse strain was identified with a recessive genetic lesion, which spontaneously developed a lymphoproliferative autoimmune syndrome exhibiting features of systemic lupus erythematosus. Positional mapping of the disease-associated locus revealed a lesion in Rasgrp1 that prevented the translation of the RasGRP1 protein.
LAYER K, LIN G, NENCIONI, ALESSIO, HU W, SCHMUCKER A, ANTOV AN, LI X, TAKAMATSU S, CHEVASSUT T, DOWER NA, STANG SL, BEIER D, BUHLMANN J, BRONSON RT, ELKON KB, STONE JC, VAN PARIJS L, LIM B.   +17 more
openaire   +3 more sources

Folliculin mutations are not associated with severe COPD

BMC Medical Genetics, 2008
Background Rare loss-of-function folliculin (FLCN) mutations are the genetic cause of Birt-Hogg-Dubé syndrome, a monogenic disorder characterized by spontaneous pneumothorax, fibrofolliculomas, and kidney tumors.
Litonjua Augusto A, Klanderman Barbara J, Cho Michael H, Sparrow David, Silverman Edwin K, Raby Benjamin A   +5 more
doaj   +1 more source

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Shield, JPH, Kapoor, RR, Hussain, K., Rubio-Cabezas, O., Kapoor, R. R., Banerjee, I, Sianhanidou, T, Siahanidou, T., Flanagan, SE, Akcay, T, Akcay, T., Cody, D., Siahanidou, T, Hussain, K, Ellard, S., Mali, G, Cody, D, Shield, JP, Shield, J. P. H., Rubio-Cabezas, O, Mali, G., Schwahn, B., Flanagan, S. E., Murphy, N, Murphy, N., Banerjee, I., Ellard, S, Schwahn, B   +27 more
core   +1 more source