Expression patterns of three JAK–STAT pathway genes in feather follicle development during chicken embryogenesis

Publication date: Available online 20 November 2019Source: Gene Expression PatternsAuthor(s): Yingfeng Tao, Xiaoliu Zhou, Zhiwei Liu, Xiaokang Zhang, Yangfan Nie, Xinting Zheng, Shaomei Li, Xuewen Hu, Ge Yang, Qianqian Zhao, Chunyan MouAbstractThe Janus kinase (JAK)–signal transducer and activator of transcription (STAT) (JAK–STAT) pathway is shown to restrain the hair follicles in catagen and telogen and prevent anagen reentry in murine hair follicle cycling. The early roles of JAK-STAT pathway...

Gene Expression Patterns

11:16

Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency

Abstract Fumarate hydratase deficiency (FHD) is a rare metabolic disease caused by two defective copies of the FH gene, which encodes the Krebs cycle enzyme fumarase. FHD is associated with brain and developmental abnormalities, seizures, and high childhood mortality. We describe the symptoms and treatment of a patient with FHD. While infantile spasms are common in FHD, the patient presented with epileptic spasms later in childhood. Also unexpectedly, the patient responded excellently to lacosamide...

American Journal of Medical Genetics Part A

Wed Nov 20, 2019 12:03

Corrigendum

American Journal of Medical Genetics Part A

Tue Nov 19, 2019 21:58

The Genetics of Male Pheromone Preference Difference Between Drosophila melanogaster and Drosophila simulans

Species of flies in the genus Drosophila differ dramatically in their preferences for mates, but little is known about the genetic or neurological underpinnings of this evolution. Recent advances have been made to our understanding of one case: pheromone preference evolution between the species D. melanogaster and D. simulans. Males of both species are very sensitive to the pheromone 7,11-HD that is present only on the cuticle of female D. melanogaster. In one species this cue activates courtship,...

G3: .Genes, Genomes, Genetics Mission - Online First Articles

Wed Nov 20, 2019 23:49

Clinical and genetic findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia

Clinical Genetics

Tue Nov 19, 2019 17:07

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

Abstract Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked Pelizaeus-Merzbacher disease (PMD). PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI). We identified...

Human Genetics

Wed Nov 20, 2019 02:00