research SCD1 Sustains Homeostasis of Bulge Niche via Maintaining Hemidesmosomes in Basal Keratinocytes
SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
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840-870 / 1000+ results research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research 855 Targeted deletion of crif1 in mouse skin epidermis impairs skin homeostasis
Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Reduced expression of Vitamin D receptor (VDR) related to alopecia universalis by Wnt/b-catenin signaling pathway Immunobiology, Alopecia Areata
Reduced Vitamin D receptor expression may cause hair loss through the Wnt/b-catenin pathway.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Epidermal differentiation: The role of proteases and their inhibitors
Balanced protease activity is crucial for healthy skin and hair development.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Calcitriol-Resistant Rickets With Alopecia
Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II
Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Case Report: Baricitinib improved alopecia areata in a pediatric patient with atopic dermatitis
Baricitinib significantly improved hair regrowth and skin condition in a 14-year-old with alopecia areata and atopic dermatitis.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Protein deprivation: comparative response of hair roots, serum protein, and urinary nitrogen
Lack of protein causes hair root damage, but it can be reversed by eating protein again.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
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 Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Increased proliferation of epidermal gamma delta T cells and expression of the transmembrane protein, BST2, in Alopecia areata
BST2 protein and certain T cells increase in early alopecia areata.
research Vitamins and Loss of Scalp Hair
A balanced diet with essential vitamins, especially B-complex, prevents hair loss.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Pathogenesis in Trichorrhexis Invaginata (Bamboo Hair)
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.