Results 81 to 90 of about 4,733,094 (302)

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

An epithelial GPR35 isoform supports tumor‐associated transcriptional and metabolic phenotypes

FEBS Letters, EarlyView.
GPR35 generates two functionally distinct isoforms with previously unresolved roles. GPR35‐short mediates immune‐cell chemotaxis, while GPR35‐long is enriched in colorectal cancer epithelium, where it supports increased metabolism, proliferation, and tumor‐associated transcriptional programs.
Jørgen D. Rønneberg, Martine Hjeltnes, Josephine Krieger, Joshua E. Elias, Maria Stensland, Kristian Holm, Xiaojun Jiang, Chuki Khangsar, Tuula A. Nyman, Arthur Kaser, Johannes R. Hov, Tom H. Karlsen, Nicole C. Kaneider, Frode L. Jahnsen, Georg Schneditz   +14 more
wiley   +1 more source

Dihydropteroate synthase gene mutations in Pneumocystis and sulfa resistance [PDF]

, 2004
Pneumocystis pneumonia (PCP) remains a major cause of illness and death in HIV-infected persons. Sulfa drugs, trimethoprim-sulfamethoxazole (TMP-SMX) and dapsone are mainstays of PCP treatment and prophylaxis.
Meja Rabodonirina, Chiara Atzori, Benfield, T, Helweg-Larsen, J, Rabodonirina, Meja, Robert Miller, Crothers, KA, Thomas Benfield, Huang, Laurence, Atzori, C, Rabodonirina, M, Laurence Huang, Kristina Crothers, Miller, R, Haung, L, Helweg-Larsen, Jannik, Jannik Helweg-Larsen, Miller, Robert, Crothers, Kristina, Benfield, Thomas, Atzori, Chiara   +20 more
core   +1 more source

Whole-Genome Sequence Accuracy Is Improved by Replication in a Population of Mutagenized Sorghum

G3: Genes, Genomes, Genetics, 2018
The accurate detection of induced mutations is critical for both forward and reverse genetics studies. Experimental chemical mutagenesis induces relatively few single base changes per individual.
Charles Addo-Quaye, Mitch Tuinstra, Nicola Carraro, Clifford Weil, Brian P. Dilkes   +4 more
doaj   +1 more source

Structure‐forward targeting of claudins with synthetic binders

FEBS Letters, EarlyView.
Claudins form the paracellular barriers between epithelial and endothelial tissues at tight junctions and are targets for molecular binders with the goal of modulating barrier permeability. Claudin‐binding molecules are relevant in drug delivery or in altering claudin interactions with disease‐causing proteins.
Alex J. Vecchio
wiley   +1 more source

The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]

, 2013
Frontotemporal lobar degeneration (FTLD) is the one of the most frequent neurodegenerative disorders characterized by behavioral and executive impairment, language disorders and motor dysfunction.
Holton, Janice L., Tammaryn Lashley, Treacy, Rebecca, Laura Calo, Michel Goedert, Parmar, Malin,, Muqit, Miratul M. K., Janice L. Holton, Revesz, Tamas, Lashley, Tammaryn, Mariangela Iovino, Tamas Revesz, Robert J. Swingler, Pfisterer, Ulrich, Swingler, Robert J., Malin Parmar, Maria Grazia Spillantini, Calo, Laura, Ulrich Pfisterer, Miratul M. K. Muqit, Parmar, Malin, Spillantini, Maria Grazia, Iovino, Mariangela, Pfisterer, Ulrich,, Lund University., Iovino, Mariaangela, Goedert, Michel, Rebecca Treacy   +27 more
core   +1 more source

Sodium azide mutagenesis induces a unique pattern of mutations.

PLoS Genetics
The nature and effect of mutations are of fundamental importance to the evolutionary process. The generation of mutations with mutagens has also played important roles in genetics.
Chaochih Liu, Giulia Frascarelli, Adrian O Stec, Shane Heinen, Li Lei, Skylar R Wyant, Erik Legg, Monika Spiller, Gary J Muehlbauer, Kevin P Smith, Justin C Fay, Peter L Morrell   +11 more
doaj   +1 more source

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

Response to Comments, Second Draft: Kansas Induced Seismicity Action Plan [2014]

, 2014
September 24, 2014"The Kansas Task Force on Induced Seismicity recently closed an open comment period in response to its second draft State Action Plan (SAP).
Kansas Induced Seismicity State Task Force.
core  

Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations [PDF]

, 2006
Somatic mitochondrial DNA (mtDNA) mutations have been found in a subset of endometrial cancers (EC) from different populations. We have investigated the relationship between mtDNA changes and clinical and pathological variables of women affected by ...
Bartnik, Ewa, Lorenc, Anna, Bryk, Jarek, Ewa Bartnik, Semczuk, Andrzej, Putowski, Lechoslaw, Anna Lorenc, Miotla, Pawel, Lechoslaw Putowski, Jaroslaw Bryk, Konrad Futyma, Andrzej Semczuk, Futyma, Konrad, Pawel Miotla   +13 more
core   +1 more source