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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480-510 / 1000+ results research 178 Neutrophil elastase is critical in linear IgA bullous dermatosis in mice
CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
research Hub biomarkers in ultrasound-guided bladder cancer and osteosarcoma: Myosin light chain kinase and caldesmon
Lower levels of MYLK and CALD1 in bladder cancer and osteosarcoma are linked to worse survival rates.
research Analysis Polymorphism of Androgen Receptor in Cases of Androgenetic Alopecia
Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Analysis of Vitamin D Receptor (VDR) Gene Polymorphisms in Alopecia Areata
Vitamin D receptor gene changes don't affect alopecia areata risk.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research 130 Expression of nidogen1 in basal cell carcinoma
Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
research Clinical Snippets
New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
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 Plasma proteome–driven identification of druggable immune regulators of alopecia areata, validated by transcriptome and single-cell mapping
Belatacept may be a promising treatment for alopecia areata.
research Identification of BST2 as a biomarker for alopecia areata in both mice and humans
BST2 is a key marker for hair loss disease alopecia areata.
research Co‐regulatory mechanisms and potential markers of oxidative stress‐related genes in vitiligo and alopecia areata
KLB and EIF3C genes are key for early diagnosis of vitiligo and alopecia areata.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Close Shave for a Keratin Disorder—K6hf Polymorphism Linked to Pseudofolliculitis Barbae
research Canonical prolactin signaling and global mRNA expression in the skin of Holstein heifers carrying the SLICK1 allele of the prolactin receptor gene
The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
research Role of polymorphism of the androgen receptor gene and non-random X chromosome inactivation in the genesis of androgenic alopecia in women of childbearing potential
Certain gene variations and irregular X chromosome activity may contribute to hair loss in women who can have children.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Basal cell carcinoma possibly originates from the outer root sheath and/or the bulge region of the vellus hair follicle
Basal cell carcinoma may start from parts of tiny hair follicles.
research Variation in the ovine trichohyalin gene and its association with wool curvature
Variation in the TCHH gene affects wool curliness in sheep.
research Pili trianguli et canaliculi as a phenotypic subtype in patients with central centrifugal cicatricial alopecia: A scanning electron microscopy study
Hair shaft changes may be linked to CCCA, but their role is unclear.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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 PO:17:252 | The choice between belimumab and anifrolumab: analysis of a monocentric cohort
The choice between belimumab and anifrolumab for treating lupus depends on the patient's specific symptoms.
research Effects of vinblastine and its metabolites on nausea and alopecia associated receptors
Vinblastine and its metabolites may cause nausea and hair loss by binding to specific receptors and could lead to better chemotherapy drugs with fewer side effects.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.