research Sgk3 links growth factor signaling to maintenance of progenitor cells in the hair follicle
Sgk3 is essential for normal hair follicle growth and maintenance.
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research Alopecia areata totalis bei 19-jähriger Patientin mit Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKHS)
A 19-year-old with MRKHS developed complete hair loss, and treatment options were discussed.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research A hairy kinase
Sgk3 kinase is essential for normal hair growth in mice.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Akt2 and SGK3 are both determinants of postnatal hair follicle development
Akt2 and SGK3 are both important for normal hair growth and development.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Paxillin regulates androgen receptor expression associated with granulosa cell focal adhesions
Paxillin may help manage androgen-related disorders like PCOS by stabilizing androgen receptor proteins.
research POLYCYSTIC OVARIAN SYNDROME - A PROBLEM OF MODERN MEDICINE
PCOS is a major health issue affecting multiple hormone-producing organs.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Loss of epidermal PLCg1 induced sebaceous gland hyperplasia and sparse hair
Removing PLCg1 from skin cells caused thicker oil glands and less hair in mice.
research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation
Increased PHGDH expression causes early melanin buildup in hair follicles.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes
KAP genes show significant genetic variability, but its impact on hair traits is unclear.
research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
research Multiple Roles of Integrin-Linked Kinase in Epidermal Development, Maturation and Pigmentation Revealed by Molecular Profiling
ILK is essential for skin development, pigmentation, and healing.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Hair Growth Promoting and Anticancer Effects of p21-activated kinase 1 (PAK1) Inhibitors Isolated from Different Parts of Alpinia zerumbet
Compounds from Alpinia zerumbet may help with hair regrowth and cancer treatment by targeting PAK1.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Bioconversion, Pharmacokinetics, and Therapeutic Mechanisms of Ginsenoside Compound K and Its Analogues for Treating Metabolic Diseases
Ginsenoside compound K shows promise for treating metabolic diseases like diabetes and obesity.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.