Results 161 to 170 of about 7,051 (240)

High‐Fat Diet Exacerbates Neuropathology in a Transgenic Mouse Model of Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Multiple system atrophy (MSA) is a rare and devastating neurodegenerative disorder. Accumulating clinical and preclinical evidence suggests that diabetes and insulin resistance may adversely influence MSA pathophysiology. Objective We investigated the potential association between diabetes, impaired glucose homeostasis, and MSA ...
Marie‐Laure Arotcarena, Anna Delamarre, Miguel Lopez‐Cuina, Hugo Martin, Elio Balpe, Xavier Fioramonti, Erwan Bezard, Wassilios G. Meissner   +7 more
wiley   +1 more source

Analysis of runs of homozygosity in Yeonsan Ogye chickens using 600K single nucleotide polymorphism arrays. [PDF]

J Anim Sci Technol
Kim J, Kim M, Cho E, Lee SS, Kim S, Jin D, Lee JH.   +6 more
europepmc   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Distribution of runs of homozygosity in Lactuca species and its implications for plant breeding and evolutionary conservation. [PDF]

BMC Genomics
Zhang Q, Lv W, Liu D, Xie X, Yang K, Tang Y, Solkner J.   +6 more
europepmc   +1 more source

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, EarlyView.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Hemoglobin Lepore‐Boston‐Washington: A Rare Cause of Unmeasurable HbA1c and Diagnostic Challenge in Diabetes

Journal of Clinical Laboratory Analysis, EarlyView.
Filippo Russo, Silvia Trombetti, Maria Rosaria Storino, Raffaele Sessa, Carmela De Felice, Giuseppe Schiavone, Michela Grosso   +6 more
wiley   +1 more source

Effectiveness and Safety of Setmelanotide in a Patient With a Heterozygous PCSK1 Deficiency

Obesity, EarlyView.
ABSTRACT Setmelanotide, a melanocortin 4 receptor (MC4R) agonist, is a promising pharmacological treatment option for people with rare monogenic obesity conditions affecting the leptin‐melanocortin signaling pathway, including proprotein convertase subtilisin/kexin type 1 (PCSK1) gene mutations.
Ellina Lytvyak, Arshdeep Rattol, Eduardo Grunvald   +2 more
wiley   +1 more source

Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank. [PDF]

J Hum Genet
Minn AKK, Matsuzaki M, Narita A, Funayama T, Kotsar Y, Makino S, Takayama J, Tohoku Medical Megabank Project Study Group, Kuriyama S, Tamiya G.   +9 more
europepmc   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Genomic scans for selection and runs of homozygosity in southern Italian turkey populations. [PDF]

Poult Sci
Saleh MS, Landi V, Derks MFL, Centoducati G, Groenen MAM, De Palo P, Ciani E, Pugliese N, Circella E, Camarda A.   +9 more
europepmc   +1 more source