Results 131 to 140 of about 795,608 (343)

DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin‐1 gene: Two novel mutations

Human Mutation, 1999
Many different mutations that cause Alzheimer's disease (AD) have been found in the presenilin‐1 gene (PSEN1) and are associated with the most aggressive forms of the disease.
J. Aldudo, M. Bullido, F. Valdivieso
semanticscholar   +1 more source

The cytochrome oxidase defect in ISC‐depleted yeast is caused by impaired iron–sulfur cluster maturation of the mitoribosome assembly factor Rsm22

FEBS Letters, EarlyView.
The yeast mitoribosome assembly factor Rsm22 contains a [4Fe‐4S] cluster that is matured by the mitochondrial iron–sulfur cluster assembly (ISC) machinery. Defects in ISC components result in impaired mitochondrial protein synthesis due to a mitoribosome assembly defect.
Ulrich Mühlenhoff, Dominik Trauth, Weronika Śliwińska, Linda Boss, Roland Lill   +4 more
wiley   +1 more source

A CRISPR Interference Platform for Efficient Genetic Repression in Candida albicans

Msphere, 2019
Fungal pathogens are an increasingly important cause of human disease and mortality, and Candida albicans is among the most common causes of fungal disease. Studying this important fungal pathogen requires a comprehensive genetic toolkit to establish how
L. Wensing, Jehoshua Sharma, Deeva Uthayakumar, Yannic Proteau, Alejandro Chavez, Rebecca S. Shapiro   +5 more
semanticscholar   +1 more source

Exploring lipid diversity and minimalism to define membrane requirements for synthetic cells

FEBS Letters, EarlyView.
Designing the lipid membrane of synthetic cells is a complex task, in which its various roles (among them solute transport, membrane protein support, and self‐replication) should all be integrated. In this review, we report the latest top‐down and bottom‐up advances and discuss compatibility and complexity issues of current engineering approaches ...
Sergiy Gan, Victoria Scarpelli, Marten Exterkate   +2 more
wiley   +1 more source

Increased leukotoxin production: Characterization of 100 base pairs within the 530 base pair leukotoxin promoter region of Aggregatibacter actinomycetemcomitans

Scientific Reports, 2017
Aggregatibacter actinomycetemcomitans leukotoxin (LtxA) is a major virulence factor that kills leukocytes permitting it’s escape from host immune surveillance. A. actinomycetemcomitans strains can produce high or low levels of toxin.
Vandana Sampathkumar, Senthil Kumar Velusamy, Dipti Godboley, Daniel H. Fine   +3 more
doaj   +1 more source

Genetic and Clinical Characteristics of Phyllodes Tumors of the Breast

Translational Oncology, 2018
PURPOSE: Phyllodes tumors (PTs) of the breast are rare, accounting for less than 1% of all breast tumors. Among PTs, malignant PTs (MPTs) have malignant characteristics and distant metastases occur in about 20% to 30% of MPTs.
Ji-Yeon Kim, Jong Han Yu, Seok Jin Nam, Seok Won Kim, Se Kyung Lee, Woong-Yang Park, Dong-Young Noh, Do-Hyun Nam, Yeon Hee Park, Wonshik Han, Jeong Eon Lee   +10 more
doaj   +1 more source

Combined Analysis of Polymorphisms of the Tumor Necrosis Factor-α and Interleukin-10 Promoter Regions and Polymorphic Xenobiotic Metabolizing Enzymes in Psoriasis

, 1999
Environmental and genetic factors are thought to interact in the manifestation of psoriasis, but knowledge about the involved genes and antigens is incomplete.
K. Reich, S. Zipprich, T. Fuchs, C. Neumann, G. Westphal, T. Schulz, Michael Müller, E. Hallier   +7 more
semanticscholar   +1 more source

The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.

New England Journal of Medicine, 1995
BACKGROUND People with Gilbert's syndrome have mild, chronic unconjugated hyperbilirubinemia in the absence of liver disease or overt hemolysis. Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about
P. Bosma, J. Chowdhury, C. Bakker, S. Gantla, A. Boer, B. Oostra, D. Lindhout, G. Tytgat, P. Jansen, R. P. Elferink, N. Chowdhury   +10 more
semanticscholar   +1 more source

C‐mannosylation promotes ADAMTS1 activation and secretion in human testicular germ cell tumor NEC8 cells

FEBS Letters, EarlyView.
C‐mannosylation is a unique form of protein glycosylation. In this study, we demonstrated that ADAMTS1 is C‐mannosylated at Trp562 and Trp565 in human testicular germ cell tumor NEC8 cells. We found that C‐mannosylation of ADAMTS1 is essential for its secretion, processing, enzymatic activity, and ability to promote vasculogenic mimicry. These findings
Takato Kobayashi, Takehiro Suzuki, Ryota Kawahara, Natsumi Harai, Naoshi Dohmae, Siro Simizu   +5 more
wiley   +1 more source

Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations

Clinical Epigenetics
Background Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2).
Paula Climent-Cantó, Marc Subirana-Granés, Mireia Ramos-Rodríguez, Estela Dámaso, Fátima Marín, Covadonga Vara, Beatriz Pérez-González, Helena Raurell, Elisabet Munté, José Luis Soto, Ángel Alonso, GiWon Shin, Hanlee Ji, Megan Hitchins, Gabriel Capellá, Lorenzo Pasquali, Marta Pineda   +16 more
doaj   +1 more source