research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
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research GPR39 marks specific cells within the sebaceous gland and contributes to skin wound healing
GPR39 is linked to certain cells in the sebaceous gland and helps with skin healing.
research Planar cell polarity effector gene Intu regulates cell fate-specific differentiation of keratinocytes through the primary cilia
Intu gene is crucial for hair follicle formation by helping keratinocytes differentiate through primary cilia.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Relating neurosteroid modulation of inhibitory neurotransmission to behaviour
Neurosteroids can influence behavior by modulating brain inhibition, with potential for treating psychiatric disorders.
research Where Have the Periods Gone? The Evaluation and Management of Functional Hypothalamic Amenorrhea
The document concludes that Functional Hypothalamic Amenorrhea should be carefully diagnosed and managed to prevent health complications, using lifestyle changes and specific medications.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: No association with female pattern hair loss identified
No link found between specific genes and female pattern hair loss.
research Genetic basis of polycystic ovary syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Expression patterns of the glial cell line–derived neurotrophic factor, neurturin, their cognate receptors GFRα-1, GFRα-2, and a common signal transduction element c-Ret in the human skin hair follicles
Certain proteins and their receptors are more active during the growth phase of human hair and could be targeted to treat hair disorders.
research From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research From basal cell carcinoma morphogenesis to the alopecia induced by hedgehog inhibitors: connecting the dots
The article concludes that hair loss is a common side effect of drugs treating skin cancer by blocking the hedgehog pathway, but treatment should continue, and more selective drugs might prevent this side effect.
research Induction of osteoblastic differentiation of neural crest-derived stem cells from hair follicles
Hair follicle cells can become bone-like cells, useful for bone repair.
research Label Retention Identifies a Multipotent Mesenchymal Stem Cell-Like Population in the Postnatal Thymus
The postnatal thymus has cells like mesenchymal stem cells that can become different cell types and help maintain thymus structure.
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.
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 Stem cell identification-in vivo lineage analysis versus in vitro isolation and clonal expansion
In vivo lineage labelling is better than in vitro methods for identifying and understanding stem cells.
research Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Regeneration of Hair Follicles Is Modulated by Flightless I (Flii) in a Rodent Vibrissa Model
Flightless I protein affects hair growth, with low levels delaying it and high levels increasing hair length in rodents.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research 5α‐Reductase Inhibitors
Finasteride effectively treats enlarged prostate and male baldness, improves symptoms of hirsutism in women, but doesn't work for acne, and may delay prostate cancer progression with few side effects.
research ROR2 regulates self-renewal and maintenance of hair follicle stem cells
ROR2 is essential for hair follicle stem cell renewal and maintenance.
research Molecular pathology of skin adnexal tumours
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs
Researchers found two genes that may explain why some Casertana pigs don't have hair.
research Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
research The genetics of alopecia areata
Alopecia areata has a complex genetic basis that was not fully understood as of 2001.