research Epidermolysis bullosa in animals: a review
Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
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810-840 / 1000+ results research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research Expression pattern of human hair keratin basic 1 (hHbl) in hair follicle and pilomatricoma
hHbl gene is active in hair shaft cells and some pilomatricomas.
research Gene polymorphisms and serum levels of BDNF and CRH in vitiligo patients
Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Comprehensive Genomic Profiling of Cutaneous Adnexal Carcinomas: A Genomic Landscape Study
Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
research Early Recurrence of Eruptive Vellus Hair Cysts after Er
Er:YAG laser therapy is ineffective for treating facial eruptive vellus hair cysts due to early recurrence and side effects.
research Scalp basal cell carcinoma: A different entity?
Scalp basal cell carcinoma may be more aggressive and harder to treat than other types, requiring special attention and further research.
research Topical Gene Electrotransfer to the Epidermis of Hairless Guinea Pig by Non-Invasive Multielectrode Array
The method safely and efficiently delivers genes to the skin but may not work for conditions needing high levels of gene products.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Ectodysplasin-A2 induces dickkopf 1 expression in human balding dermal papilla cells overexpressing the ectodysplasin A2 receptor
A protein called ectodysplasin-A2 increases a hair growth inhibitor in balding cells, which could be a target for hair loss treatment.
research Author response: Dynamics of nevus development implicate cell cooperation in the growth arrest of transformed melanocytes
Moles may stop growing because of cell cooperation, not just because of aging cells.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research A microscopy-based small molecule screen in primary neurons reveals neuroprotective properties of the FDA-approved anti-viral drug Elvitegravir
The anti-viral drug Elvitegravir may protect brain cells from damage related to neurodegenerative diseases.
research Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes
Basonuclin may help control ribosomal RNA gene activity in skin cells.
research Upregulation of genes orchestrating keratinocyte differentiation, including the novel marker gene ID2, by contact sensitizers in human bulge‐derived keratinocytes
The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
research A Murine Monoclonal Antibody (VM-1) Against Human Basal Cells Inhibits the Growth of Human Keratinocytes in Culture
research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
research Human keratinocytes derived from the bulge region of hair follicles are refractory to differentiation
Hair follicle cells resist turning into skin cells.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Exacerbation of alopecia areata during pegylated interferon alpha-2b and ribavirin therapy, possibly due to the collapse of hair follicle immune privilege
A woman's hair loss worsened after starting hepatitis C treatment due to immune changes in her hair follicles.
research Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene
An adult with a rare skin condition improved with tazarotene treatment.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.
research 877 Loss of UBE2N in keratinocytes leads to skin inflammation and immune infiltration through IRAK1/4-mediated processes
Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
research The Molecular Biology of the Vitamin D Receptor
The vitamin D receptor can affect gene activity even without its usual hormone in hair and skin.
research Recurrence of cutaneous T‐cell lymphoma post viral vector COVID‐19 vaccination
COVID-19 vaccination may trigger recurrence of cutaneous T-cell lymphoma in some patients.
research Ectodysplasin research—Where to next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Lectin‐binding profiles for normal skin appendages and their tumors
Skin tumors and normal skin structures have different lectin-binding patterns.