Results 131 to 140 of about 1,262,664 (328)

A novel NPHS1 variant in a Chinese infant with congenital nephrotic syndrome: a case report and literature review

Frontiers in Pediatrics
Congenital nephrotic syndrome is a rare autosomal recessive genetic disorder, with the Finnish type caused by NPHS1 variants being the most common. It is characterized by massive proteinuria, hypoalbuminemia, hypercholesterolemia, and edema, ultimately ...
Wei Zhang, Li Min Hou, Xian Cheng
doaj   +1 more source

ALDH4A1 expression levels are elevated in postmortem brains of patients with schizophrenia and are associated with genetic variants in enzymes related to proline metabolism

, 2020
Atsuko Nagaoka, Yasuto Kunii, Mizuki Hino, Ryuta Izumi, Chisato Nagashima, Akari Takeshima, Makoto Sainouchi, Hiroyuki Nawa, Akiyoshi Kakita, Hirooki Yabe   +9 more
openalex   +1 more source

Peptide‐based ligand antagonists block a Vibrio cholerae adhesin

FEBS Letters, EarlyView.
The structure of a peptide‐binding domain of the Vibrio cholerae adhesin FrhA was solved by X‐ray crystallography, revealing how the inhibitory peptide AGYTD binds tightly at its Ca2+‐coordinated pocket. Structure‐guided design incorporating D‐amino acids enhanced binding affinity, providing a foundation for developing anti‐adhesion therapeutics ...
Mingyu Wang, Grace Du, Charity Yongo‐Luwawa, Angelina Lu, Brett Kinrade, Kim Munro, Karl E. Klose, William D. Lubell, Peter Davies, Shuaiqi Guo   +9 more
wiley   +1 more source

Genetic variant in the BRAF gene compatible with Noonan spectrum disorders in an adult Fontan patient with refractory protein losing enteropathy: a follow-up report [PDF]

, 2023
Marieke Nederend, J. Lauran Stöger, Anastasia D. Egorova, Daniela Q.C.M. Barge‐Schaapveld, Monique R.M. Jongbloed   +4 more
openalex   +1 more source

Rare variants contribute disproportionately to quantitative trait variation in yeast. [PDF]

, 2019
How variants with different frequencies contribute to trait variation is a central question in genetics. We use a unique model system to disentangle the contributions of common and rare variants to quantitative traits.
Bloom, Joshua S, Boocock, James, Day, Laura, Kruglyak, Leonid, Oates-Barker, Holly, Sadhu, Meru J, Treusch, Sebastian   +6 more
core   +1 more source

Interplay between circadian and other transcription factors—Implications for cycling transcriptome reprogramming

FEBS Letters, EarlyView.
This perspective highlights emerging insights into how the circadian transcription factor CLOCK:BMAL1 regulates chromatin architecture, cooperates with other transcription factors, and coordinates enhancer dynamics. We propose an updated framework for how circadian transcription factors operate within dynamic and multifactorial chromatin landscapes ...
Xinyu Y. Nie, Jerome S. Menet
wiley   +1 more source

A Novel and Rapid Method of Determining the Effect of Unclassified MLH1 Genetic Variants on Differential Allelic Expression [PDF]

, 2010
Sheron Perera, Brian Li, Soultana Tsitsikotas, Lily Ramyar, Aaron Pollett, Kara Semotiuk, Bharati Bapat   +6 more
openalex   +1 more source

Disordered but rhythmic—the role of intrinsic protein disorder in eukaryotic circadian timing

FEBS Letters, EarlyView.
Unstructured domains known as intrinsically disordered regions (IDRs) are present in nearly every part of the eukaryotic core circadian oscillator. IDRs enable many diverse inter‐ and intramolecular interactions that support clock function. IDR conformations are highly tunable by post‐translational modifications and environmental conditions, which ...
Emery T. Usher, Jacqueline F. Pelham
wiley   +1 more source

COMPARISON OF ASPIRIN COMBINED NAOXINTONG VERSUS ADJUSTED-DOSE WARFARIN IN ELDERLY PATIENTS WITH HIGH-RISK NON-VALVULAR ATRIAL FIBRILLATION AND GENETIC VARIANTS OF VKORC1 [PDF]

, 2012
Chen Hui, Xiaoying Wu, Chen Hui
openalex   +1 more source

Comparative Characterization of the Expression Profiles of Cardiac Kv7.1 Channels Containing Two Rare Genetic Variants [PDF]

, 2023
A.B. Pashkov, Mária Karľová, А. М. Мойсенович, Denis V. Abramochkin, E. V. Zaklyazminskaya, Olga S. Sokolova   +5 more
openalex   +1 more source