research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
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510-540 / 1000+ results research PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands
PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
research Molecular Evolution of The Keratin‐associated Protein Gene Family
The KRTAP gene family helps understand hair evolution and hair disorders.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Genetics of Alopecia
Different genes are linked to various types of hair loss.
research Ribonucleic Acids Coding for the Keratin Complex of Hair
Keratin proteins in hair are complex and come from multiple gene families.
research Genetics of thyroid lesions updated
RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
research Structure and hair follicle-specific expression of genes encoding the rat high sulfur protein B2 family
The B2 genes are crucial for hair growth in rats.
research Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Function and interactions of the Ysc84/SH3yl1 family of actin- and lipid-binding proteins
The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Impact of mTORC1 inhibition on keratinocyte proliferation during skin tumor promotion in wild‐type and BK5.AktWT mice
Rapamycin reduces skin cell growth and tumor development by affecting cell signaling in mice.
research LB1053 Dysregulation of antioxidant enzyme PRDX5 in alopecia areata
PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Is thyrotropin-releasing hormone a novel neuroendocrine modulator of keratin expression in human skin?
Thyrotropin-releasing hormone may help control skin and hair growth and could aid in treating related disorders.
research KRT17: A Key Driver of Cancer Therapy Resistance and Emerging Therapeutic Target
Targeting Keratin 17 may help overcome cancer therapy resistance.
research TOR tour to auxin
The plant hormone auxin activates the TOR pathway, affecting gene expression related to growth and cell size.
research Fast Motions in 5 Alpha Reductase and Its Impact on Enzyme Kinetics
Efficient enzyme function relies on specific residue interactions and structural coordination.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype
Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
research Ponatinib-induced pityriasis rubra pilaris-like adnexal dysmaturation: A case report
Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
research JAK Family Expression and Therapeutic Implications in Primary Cicatricial Alopecias
JAK inhibitors may help treat certain types of hair loss, but more research is needed.
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 Expression and localization of A rtemis serine 516 phosphorylation in human scalp skin
Artemis phosphorylation at Ser516 may help regulate skin and hair structures.