We aimed to identify the genetic causes of common forms of obesity in the Pakistani people and find out the mechanistic link by observing the relationship of genes and serum lipid traits. Four hundred...
Biosci. Rep. - issue: 4 - volume: 38 - pages: .

Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his...
Hum. Mutat. - issue: 7 - volume: 39 - pages: 934-938.

Clinostats and Random Positioning Machine (RPM) are used to simulate microgravity, but, for space exploration, we need to know the response of living systems to fractional levels of gravity (partial...
NPJ Microgravity - issue: - volume: 4 - pages: 9.

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and...
F1000Res - issue: - volume: 7 - pages: 398.

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three...
Am. J. Hum. Genet. - issue: 3 - volume: 102 - pages: 364-374.

Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional...
Cancer Genet - issue: - volume: 221 - pages: 31-37.

An efficient method to construct xenogeneic genomic libraries with low errors and bias by circumventing restriction-modification systems that restrict methylated DNA was developed. Un-methylated...
J. Microbiol. Methods - issue: - volume: 146 - pages: 13-15.

Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
Pigment Cell Melanoma Res - issue: 3 - volume: 31 - pages: 437-441.

BACKGROUND: In lung adenocarcinoma, molecular profiling of actionable genes has become essential to set up targeted therapies. However, the feasibility and the relevance of molecular profiling from...
Clin. Chem. Lab. Med. - issue: 5 - volume: 56 - pages: 748-753.

Corynebacterium glutamicum was metabolically engineered to produce 4-hydroxybenzoic acid (4-HBA), a valuable aromatic compound used as a raw material for the production of liquid crystal polymers and...
Appl. Environ. Microbiol. - issue: 6 - volume: 84 - pages: .

PURPOSE: To describe the impact of the National Cancer Institute's promotion of its youth smoking cessation program, Smokefree Teen (SFT). DESIGN: We provide a description of campaign strategies and...
Am J Health Promot - issue: 5 - volume: 32 - pages: 1273-1279.

Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the...
- issue: 4 - volume: 20 - pages: 465-473.

Purification of proteins containing disordered regions and participating in transient complexes is often challenging because of the small amounts available after purification, their heterogeneity,...
Methods Mol. Biol. - issue: - volume: 1764 - pages: 315-328.

Proton pump inhibitors (PPIs) are among the most frequently prescribed drugs. Even if PPI are usually considered as safe, there is a growing concern for a range of adverse effects of chronic PPI...
- issue: - volume: - pages: .

Objective: Glucocorticoid excess is one of the most important causes of bone disorders. Bone marrow fat (BMF) has been identified as a new mediator of bone metabol ism. Cushing syndrome (CS) is a main...
- issue: 5 - volume: 179 - pages: 307-317.

Giant congenital melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
- issue: - volume: - pages: .

A systematic review of the literature was performed on the association of chronic inflammatory demyelinating polyneuropathy (CIDP) with malignancy. Hematological disorders are the most common...
- issue: 6 - volume: 57 - pages: 875-883.

Hydration status is critical for erythrocyte survival and is mainly determined by intracellular cation content. Active pumps, passive transporters, and ion channels are the key components of volume...
- issue: 1, SI - volume: 40 - pages: 68-73.

Objective: Current diagnostic electrophysiological criteria can miss the early stages of Guillain-Barre syndrome (GBS). We evaluated the diagnostic efficiency of the triple stimulation technique (TST)...
- issue: 1 - volume: 129 - pages: 127-132.