research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
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510-540 / 1000+ results research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research A novel regio-specific cyclosporin hydroxylase gene revealed through the genome mining of Pseudonocardia autotrophica
Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
research Structural changes in hair follicles and sebaceous glands of hairless mice following exposure to sulfur mustard
Sulfur mustard damages hair follicles and sebaceous glands in mice.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research SKPing a Hurdle: Sox2 and Adult Dermal Stem Cells
Sox2-expressing cells can help grow hair and heal skin.
research Cutaneous Two-Stage Chemical Carcinogenesis
The method effectively induces skin cancer in mice for studying tumor development.
research 646 SOX4 is essential for melanoma tumorigenesis
SOX4 is crucial for the development of melanoma.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Localizing the ROS Signal
Localized ROS production is essential for cell growth and movement in plants and animals.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Author response: Arabidopsis formin 2 regulates cell-to-cell trafficking by capping and stabilizing actin filaments at plasmodesmata
Arabidopsis Formin 2 stabilizes actin filaments, affecting cell-to-cell movement and virus susceptibility.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
research CC-type glutaredoxins mediate plant response and signaling under nitrate starvation in Arabidopsis
ROXY proteins help plants respond to nitrate shortage by affecting nutrient sensing and growth.
research Functional analysis of thymosin beta-4 using over-expressing transgenic mice
Melanoma cells lose their ability to form tumors when placed in a zebrafish embryo environment.
research Modification of the immune system with hydrogen sulfide and cyclosporine A
Age-related immune changes significantly affect disease development in other systems.
research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Structural variation-driven FADS2P1 expression modulates hair trait diversity through unsaturated fatty acid metabolism in goats
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research 607 Cutaneous overexpression of cyclooxygenase-2 models androgenetic alopecia in adult mice
Cyclooxygenase-2 overexpression in mice skin causes hair loss like human androgenetic alopecia.
research The susceptibility of disulfide bonds to modification in keratin fibers undergoing tensile stress
Disulfide bonds in keratin fibers break more easily under stress, especially when wet, affecting fiber strength.
research NG2 Proteoglycan Expression in Mouse Skin: Altered Postnatal Skin Development in the NG2 Null Mouse
NG2 is crucial for normal skin and hair development in mice.
research SPT6 maintains epidermal homeostasis by inhibiting an NF-κB-positive feedback loop to prevent excessive inflammation
SPT6 prevents excessive skin inflammation by blocking a feedback loop.
research New insights into the functions of Cox-2 in skin and esophageal malignancies
Cox-2 significantly contributes to the development and progression of skin and esophageal cancers.
research 1440 DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control keratinocyte differentiation and hair growth
Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.