research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
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research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Comparative Characterization of Human Meibomian Glands, Free Sebaceous Glands, and Hair-Associated Sebaceous Glands Based on Biomarkers, Analysis of Secretion Composition, and Gland Morphology
Meibomian glands are highly specialized and differ significantly from other sebaceous glands in structure and function.
research Two novel CreERT2 transgenic mouse lines to study melanocytic cells in vivo
New mouse models help study melanocytic cells for melanoma research.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Intermolecular disulfide cross-linked structural change induced by permanent wave treatment of human hair with thioglycolic acid.
Permanent wave treatment with thioglycolic acid changes hair structure by altering disulfide bonds.
research Gemcitabine combined with either pemetrexed or paclitaxel in the treatment of advanced non-small cell lung cancer
Combining gemcitabine with paclitaxel is more effective than with pemetrexed for advanced lung cancer.
research Cooperation of TGF ‐β and FGF signalling pathways in skin development
TGF-β and FGF pathways are crucial for skin development and regeneration.