Results 111 to 120 of about 274,419 (351)

Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene [PDF]

, 2001
The gene for the single subunit, rotenone-insensitive, and flavone-sensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae (NDI1) can completely restore the NADH dehydrogenase activity in mutant human cells that lack the essential ...
Attardi, Giuseppe, Bai, Yidong, Chan, Elisa, Chomyn, Anne, Hájek, Petr, Matsuno-Yagi, Akemi, Seo, Byoung Boo, Yagi, Takao   +7 more
core   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Targeting CYP450 modulation to decrease the risk of induced cataract in the experimental model

Indian Journal of Ophthalmology, 2010
Background: Diabetes is one of the major causes of cataract. Some drugs prescribed for the treatment of diabetes are the modulators of CYP450, which may alter the risk of cataract.
Patel D, Gandhi T, Patel K, Patil D, Parikh P   +4 more
doaj  

New approaches to treating chronic obstructive pulmonary disease with Colla corii asini

Animal Models and Experimental Medicine, EarlyView.
Colla corii asini improves chronic obstructive pulmonary disease (COPD) treatment through anti‐inflammatory, antioxidant, immune‐modulatory, and lung‐nourishing effects, addressing current therapeutic challenges via multitarget mechanisms. Abstract Chronic obstructive pulmonary disease (COPD) is one of the leading causes of death and disability ...
Wenchao Zhang, Siman Sun, Xiaoyu Fan, Jiuming He, Qing Li, Hongtao Jin   +5 more
wiley   +1 more source

Galactose Metabolism [PDF]

Science, 1966
W. E. Razzell, H. M. Kalckar
openaire   +3 more sources

Level of sialylation and galactosylation of blood plasma glycoproteins under the influence of alkylating chemotherapy in patients with chronic lymphocytic leukemia

Біологічні студії, 2013
Level of sialylation, galactosylation of α1-acid glycoprotein and plasma fibronectin in patients with chronic lymphocytic leukemia before the alkylating therapy and at its different stages were studied.
G. S. Маslak, O. V. Kostyuk, A. O. Kulinich, I. V. Mashejko   +3 more
doaj   +1 more source

Isolation and characterization of acetic acid-tolerant galactose-fermenting strains of Saccharomyces cerevisiae from a spent sulfite liquor fermentation plant [PDF]

, 1992
Torbjörn Lindén, J. Peetre, Bärbel Hahn‐Hägerdal   +2 more
openalex   +1 more source

Construction of Highly Ordered Glyco‐Inside Nano‐Assemblies through RAFT Dispersion Polymerization of Galactose‐Decorated Monomer

, 2021
Liang Qiu, Haoran Zhang, Thomas Bick, Johannes Martin, Petra Wendler, Alexander Böker, Ulrich Glebe, Chengfen Xing   +7 more
openalex   +1 more source

Knockout mutants of Arabidopsis thaliana β-galactosidase. Modifications in the cell wall saccharides and enzymatic activities

Biologia Plantarum, 2018
This work studied the six β-galactosidases (BGALs) of the subfamily a1 of Arabidopsis, that have been proposed to play important roles in the cell wall remodelling during plant development, although their precise functions are still unknown.
M. Moneo-Sánchez, L. Izquierdo, I. Martín, J. Hernández-Nistal, L. Albornos, B. Dopico, E. Labrador   +6 more
doaj   +1 more source