Results 151 to 160 of about 15,343 (276)

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

Animal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang, Wei Dai, Jiqiang Liu, Zhengguang Wang   +3 more
wiley   +1 more source

Identification of histone deacetylase inhibitor targeting type I interferon and B‐cell abnormalities in systemic lupus erythematosus

Arthritis &Rheumatology, Accepted Article.
Objective Systemic lupus erythematosus (SLE) is characterized by increased type I interferon (IFN‐I) and autoantibody production. This study aimed to identify drugs that can inhibit both IFN‐I and autoantibody production. Methods We identified an inhibitor of IFN‐I production from a chemical library.
Takehiro Hirayama, Hachiro Konaka, Yasuhiro Kato, Takayuki Shibahara, Chisato Nishizawa, Kohei Tsujimoto, JeongHoon Park, Eri Itotagawa, Tatsunori Jo, Masayuki Nishide, Sumiyuki Nishida, Yoshihito Shima, Masashi Narazaki, Wataru Aoki, Ken J Ishii, Hyota Takamatsu, Atsushi Kumanogoh   +16 more
wiley   +1 more source

OGFRL1 deficiency causes CRMO via pathological osteoclastogenesis, with therapeutic response to TNF inhibitor

Arthritis &Rheumatology, Accepted Article.
Objectives To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Long‐term impact of Elexacaftor/Tezacaftor/ivacaftor on pulmonary, nutritional and metabolic outcomes in homozygous F508del cystic fibrosis patients: A real‐world cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aim Elexacaftor/tezacaftor/ivacaftor (ETI) has markedly improved cystic fibrosis (CF) outcomes. However, its long‐term impact on nutrition, metabolism and liver health remains underexplored. We assessed 30‐month changes in pulmonary, nutritional, metabolic and inflammatory markers in people with CF (PwCF) homozygous for F508del.
Nicola Perrotta, Luigi Angelo Fiorito, Roberta Vescovo, Anna Virgilio, Giulia Amato, Giuseppe Cimino   +5 more
wiley   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

Evaluation of gene editing in CHO cells using the Cas‐CLOVER system

Biotechnology Progress, EarlyView.
Abstract Recent advances in gene editing technologies have transformed the genetic engineering of Chinese hamster ovary (CHO) hosts, enabling the development of cell lines with improved stability and productivity. In this study, we employed the programmable nuclease (PN) Cas‐CLOVER to precisely target the Glutamine synthetase (GS) locus in CHO cells. A
Tiffany McLamarrah, Efecan Aral, Michael Hoffman, Jennifer Tedstone, Thomas King, Jason Vitko, Maria João Sebastião, Jose M. Escandell, Mafalda M. Dias, Iona McCall, Daniel Machado, Victor Cairns, Christine DeMaria, John J. Scarcelli   +13 more
wiley   +1 more source

Actin Isovariant ACT2‐Mediated Cellular Auxin Homeostasis Regulates Lateral Root Organogenesis in Arabidopsis thaliana

Cytoskeleton, EarlyView.
ABSTRACT Lateral root (LR) organogenesis is regulated by cellular flux of auxin within pericycle cells, which depends on the membrane distribution and polar localization of auxin carrier proteins. The correct distribution of auxin carrier proteins relies on the intracellular trafficking of these proteins aided by filamentous actin as a track.
Aya Hanzawa, Arifa Ahamed Rahman, Abidur Rahman   +2 more
wiley   +1 more source

PEK14: A Kinesin‐4 Necessary for Male‐Derived Fertility in Arabidopsis thaliana

Cytoskeleton, EarlyView.
ABSTRACT Of the 61 kinesins annotated in Arabidopsis thaliana, many are still without assigned function. Here, we have screened an insertional mutant library of Arabidopsis pollen‐expressed kinesins for fertility defects. Insertional mutants for three kinesins showed a significant reduction in seed set.
Isabella N. Mendes, Norman R. Groves, Jessica Z. Li, Lily N. Thompson, Brian J. Smith, Aman Y. Husbands, Iris Meier   +6 more
wiley   +1 more source