Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually...
Nucleus - issue: 1 - volume: 9 - pages: 246-257.

BackgroundImmune checkpoint (ICK) expression might represent a surrogate measure of tumor-infiltrating T cell (CTL) exhaustion and therefore be a more accurate prognostic biomarker for colorectal...
- issue: 1 - volume: 110 - pages: 68-77.

Although cardiac neural crest cells are required at early stages of arterial valve development, their contribution during valvular leaflet maturation remains poorly understood. Here, we show in mouse...
- issue: 1 - volume: 145 - pages: dev151944.

IntroductionA large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome...
- issue: 1 - volume: 26 - pages: 143-148.

AIM OF THE STUDY Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms...
- issue: 1 - volume: 61 - pages: 1--7.

BACKGROUND: Cushing's disease is a rare debilitating endocrine disorder for which few prospective interventional studies have been done. We report results of the first phase 3 trial assessing...
Lancet Diabetes Endocrinol - issue: 1 - volume: 6 - pages: 17-26.

Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually...
Nucleus - issue: 1 - volume: 9 - pages: 246-257.

Neuropathol. Appl. Neurobiol. - issue: 7 - volume: 43 - pages: 631-635.

Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many...
Mol. Carcinog. - issue: 4 - volume: 56 - pages: 1290-1301.

OBJECTIVE: To evaluate which tests are performed to diagnose hypercortisolism in patients included in the European Registry on Cushing's syndrome (ERCUSYN), and to examine if their use differs from...
Eur. J. Endocrinol. - issue: 5 - volume: 176 - pages: 613-624.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which upper and lower motoneurons degenerate leading to muscle wasting, paralysis and eventually death from respiratory...
PLoS ONE - issue: 5 - volume: 12 - pages: e0177649.

During spermiogenesis the spermatid nucleus is elongated, and dramatically reduced in size with protamines replacing histones to produce a highly compacted chromatin. After fertilisation, this process...
Reproduction - issue: 4 - volume: 154 - pages: 387-401.

Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the...
PLoS ONE - issue: 6 - volume: 12 - pages: e0178125.

BACKGROUND: Deficiency in dihydropyrimidine dehydrogenase (DPD) enzyme is the main cause of severe and lethal fluoropyrimidine-related toxicity. Various approaches have been developed for...
PLoS ONE - issue: 5 - volume: 12 - pages: e0175998.

Skeletal muscles are composed of myofibers, the biggest cells in the mammalian body and one of the few syncytia. How the complex and evolutionarily conserved structures that compose it are assembled...
J Vis Exp - issue: 119 - volume: - pages: .

The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A). However, the sensitivity...
PLoS ONE - issue: 1 - volume: 12 - pages: e0169878.

Repair of skeletal muscle after sarcolemmal damage involves dysferlin and dysferlin-interacting proteins such as annexins. Mice and patient lacking dysferlin exhibit chronic muscle inflammation and...
Hum. Mol. Genet. - issue: 11 - volume: 26 - pages: 1979-1991.

A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes the acephalic spermatozoa syndrome. Consistent with...
Hum. Mol. Genet. - issue: 16 - volume: 26 - pages: 3167-3171.

BACKGROUND: Deficiency in dihydropyrimidine dehydrogenase (DPD) enzyme is the main cause of severe and lethal fluoropyrimidine-related toxicity. Various approaches have been developed for...
PLoS ONE - issue: 5 - volume: 12 - pages: e0175998.

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