research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
Search
for
Sort by
Research
570-600 / 1000+ resultsresearch Differential Expression of Genes Encoding a Cysteine-Rich Keratin Family in the Hair Cuticle
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research 604 DNA dioxygenases TET regulate keratin gene expression and enhancer networks within lineage-specific gene loci during epidermal and hair follicle-specific keratinocyte differentiation
TET enzymes are important for skin and hair development by controlling gene activity in specific areas.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
research 169 TEDAR, a skin-specific long non-coding RNA, orchestrates the late epidermal differentiation program in the human epidermis
TEDAR is crucial for skin cell differentiation and barrier formation.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Thyrotropin releasing hormone (TRH): a new player in human hair‐growth control
TRH stimulates human hair growth and extends the hair growth phase.
research Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Tombo em João Pessoa dá força a Memorial da Arquitetura Paraibana
Targeted cancer drugs can cause skin reactions, so dermatologists must manage these effects.
research Protein Kinase C Epsilon Signals Ultraviolet Light‐induced Cutaneous Damage and Development of Squamous Cell Carcinoma Possibly Through Induction of Specific Cytokines in a Paracrine Mechanism¶
Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.
research The sheep KAP8-2 gene, a new KAP8 family member that is absent in humans
Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Comprehensive Safety Exposure‐Response Analysis to Support Ritlecitinib Dose Selection
A 50 mg non-loading dose of ritlecitinib is safe for adults and adolescents.
research Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens
TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Hydroxytyrosol Alleviates Acute Liver Injury by Inhibiting the TNF-α/PI3K/AKT Signaling Pathway via Targeting TNF-α Signaling
Hydroxytyrosol helps reduce liver injury by blocking certain inflammation pathways.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research PRX102 Participates in Root Hairs Tip Growth of Rice
PRX102 is essential for rice root hair growth by helping transport substances to the tips.
research 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus
PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
research Keratins and disease at a glance
Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
research BPS2026 – TMC1 and TMC2 are cholesterol-dependent scramblases that regulate membrane homeostasis in auditory hair cells
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
research Skin l ‐tryptophan‐2,3‐dioxygenase and rat hair growth
A new enzyme in rats may help regulate hair growth.
research The molecular basis of human keratin disorders
research Spiking dependence of SARS‐CoV‐2 pathogenicity on TMPRSS2
TMPRSS2 affects COVID-19 severity and treatment options.