Results 21 to 30 of about 1,268,660 (340)

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Billingsley, G., Graw, Jochen, Heon, E., Illig, T., Klopp, N., Rudolph, G., Wjst, M.   +6 more
core   +1 more source

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. [PDF]

, 2019
Background and purposeThe objective of this study was to longitudinally investigate the trajectory of change in 1 H MRS measurements in asymptomatic MAPT mutation carriers who became symptomatic during follow-up, and to determine the time at which the ...
Boeve, Bradley F, Boxer, Adam L, Brushaber, Danielle, Chen, Qin, Dheel, Christina, Fields, Julie, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Debra, Graff-Radford, Jonathan, Graff-Radford, Neill, Gunter, Jeffrey L, Haley, Dana, Jones, David, Kantarci, Kejal, Knopman, David, Kraft, Ruth, Lapid, Maria, Lesnick, Timothy, Rademakers, Rosa, Rosen, Howie, Tosakulwong, Nirubol, Wszolek, Zbigniew K   +22 more
core   +3 more sources

KRAS G12D Mutation Subtype in Pancreatic Ductal Adenocarcinoma: Does It Influence Prognosis or Stage of Disease at Presentation?

Cells, 2022
Background: KRAS G12D mutation subtype is present in over 40% of pancreatic ductal adenocarcinoma (PDAC), one of the leading global causes of cancer death.
Henry Shen, Joanne Lundy, Andrew H. Strickland, Marion Harris, Michael Swan, Christopher Desmond, Brendan J. Jenkins, Daniel Croagh   +7 more
doaj   +1 more source

Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation [PDF]

, 2006
The planar cell polarity (PCP) pathway is conserved throughout evolution, but it mediates distinct developmental processes. In Drosophila, members of the PCP pathway localize in a polarized fashion to specify the cellular polarity within the plane of the
Brinkman, Brendan C., Chen, Ping, Dickinson, Mary E., Fraser, Scott E., Hamblet, Natasha S., Mark, Sharayne, Segil, Neil, Wallingford, John B., Wang, Jianbo, Wynshaw-Boris, Anthony   +9 more
core   +1 more source

Detection of A2143G, A2142C, and A2142G Point Mutations with Real-Time PCR in Stool Specimens from Children Infected with Helicobacter pylori

Diagnostics, 2022
Reports have indicated an increasing prevalence of clarithromycin resistance in children relative to adults. Thus, it is important to investigate primary clarithromycin resistance before therapy to avoid treatment failure.
Nesrin Gareayaghi, Bekir Kocazeybek
doaj   +1 more source

Sodium leak through K2P potassium channels and cardiac arrhythmia, an emerging theme. [PDF]

, 2017
In this issue of EMBO Molecular Medicine, Decher et al (2017) identify a point mutation in the K2P2 (TREK‐1) potassium (K+) channel that changes function in just those ways expected to predispose to right ventricular outflow tract (RVOT) ventricular
Goldstein, Steve An
core   +2 more sources

Hot-Spot-Specific Probe (HSSP) for Rapid and Accurate Detection of KRAS Mutations in Colorectal Cancer

Biosensors, 2022
Detection of oncogene mutations has significance for early diagnosis, customized treatment, treatment progression, and drug resistance monitoring. Here, we introduce a rapid, sensitive, and specific mutation detection assay based on the hot-spot-specific
Hyo Joo Lee, Bonhan Koo, Yoon Ok Jang, Huifang Liu, Thuy Nguyen Thi Dao, Seok-Byung Lim, Yong Shin   +6 more
doaj   +1 more source

Studies of FLT3 mutations in paired presentation and relapse samples from patients with acute myeloid leukemia: implications for the role of FLT3 mutations in leukemogenesis, minimal residual disease detection, and possible therapy with FLT3 inhibitors [PDF]

, 2002
FLT3 mutations, either internal tandem duplications (ITDs) or aspartate residue 835 (D835) point mutations, are present in approximately one third of patients with acute myeloid leukemia (AML) and have been associated with an increased relapse rate.
Bowen, D.T., Frew, M.E., Gale, R.E., Kottaridis, P.D., Langabeer, S.E., Linch, D.C.   +5 more
core   +1 more source

Susceptibility to Acaricides and the Frequencies of Point Mutations in Etoxazole- and Pyridaben-Resistant Strains and Field Populations of the Two-Spotted Spider Mite, Tetranychus urticae (Acari: Tetranychidae)

Insects, 2021
The two-spotted spider mite Tetranychus urticae Koch is a major agricultural pest worldwide and is known to rapidly develop resistance to pesticides.
Hyun-Na Koo, Jihye Choi, Eungyeong Shin, Wonjin Kang, Sun-Ran Cho, Hyunkyung Kim, Bueyong Park, Gil-Hah Kim   +7 more
doaj   +1 more source

Reduced mutation rate and increased transformability of transposon-free Acinetobacter baylyi ADP1-ISx [PDF]

, 2017
The genomes of most bacteria contain mobile DNA elements that can contribute to undesirable genetic instability in engineered cells. In particular, transposable insertion sequence (IS) elements can rapidly inactivate genes that are important for a ...
Barrick, Jeffrey E, Dasgupta, Aurko, Renda, Brian A, Suárez, Gabriel A   +3 more
core   +2 more sources