research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
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research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research CD133-positive dermal papilla-derived Wnt ligands regulate postnatal hair growth
Wnt proteins from certain skin cells are crucial for normal hair growth and renewal.
research The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research Human epithelial stem cell survival within their niche requires “tonic” cannabinoid receptor 1‐signalling—Lessons from the hair follicle
Cannabinoid receptor-1 signaling is essential for the survival and growth of human hair follicle stem cells.
research Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study
No clear link between androgen receptor variation and hair loss, but more research needed.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Epidermal expression of receptor for advanced glycation end products (RAGE) is related to inflammation and apoptosis in human skin
Skin RAGE levels are linked to inflammation and cell death.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Ligand‐independent Regulation of the hairless Promoter by Vitamin D Receptor†
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Depletion of Gsdma1/2/3 alleviates PMA-induced epidermal hyperplasia by inhibiting the EGFR–Stat3/Akt pathway
Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
research Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity
Chicken feather gene mutation helps understand human hair disorders.
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 Severe metabolic disorders coexisting with Werner syndrome: a case report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Le gènehairlessde la souris
The hairless gene is crucial for hair health, and its mutations cause hair loss.
research SNP Markers: Analysis of Genetic Diversity and Identification of Genomic Regions in Pantaneiro Sheep and Texel Sheep Under Natural Selection
Pantaneiro sheep have more genetic diversity than Texel sheep, with potential for future research in Brazilian farming.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.