research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
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research Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research Pilomatricoma in the infraorbital region
Pilomatricoma is a rare, benign skin tumor that requires surgical removal for best results.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research The exploration of mitochondrial‐related features helps to reveal the prognosis and immunotherapy methods of colorectal cancer
Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research SAT367 A Rare Case of Ovarian Cellular Fibroma Producing Testosterone
A woman's ovarian fibroma caused high testosterone levels, which normalized after surgery.
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 A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Overexpression of insulin-like growth factor-1 induces hyperplasia, dermal abnormalities, and spontaneous tumor formation in transgenic mice
Overexpressing IGF-1 in mice leads to skin abnormalities and tumors.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research Alopezien und Hypotrichosen im Kindesalter
Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
research Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) Affects Keratin 1 and Keratin 17 Gene Expression and Differentially Induces Keratinization in Hairless Mouse Skin
research Matrix-Degrading Type II Transmembrane Serine Protease Matriptase: Its Role in Cancer Development and Malignancy
Matriptase imbalance contributes to cancer development and spread.
research A case of temporal triangular alopecia
A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.
research The long road traveled in hematopoietic stem cell gene therapy
The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
research Vorasidenib-Induced Trichomegaly and Hypertrichosis: a New Side Effect in a Patient with Diffuse Astrocytoma
Vorasidenib can cause unusual hair growth.
research Tricholemmoma and tricholemmal carcinoma and Cowden syndrome
Tricholemmoma is linked to Cowden syndrome and can be benign or malignant.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research Constitutive activation of S tat3 in mouse epidermis is linked to hair deficiency and cytoskeletal network damage
Overactive Stat3 in mouse skin causes hair loss and cell structure damage.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Trichofolliculoma Showing Perineural Invasion
Trichofolliculomas can sometimes be more aggressive than thought.
research Desmoplastic tricholemmoma in a dog
A dog had a rare skin tumor called desmoplastic tricholemmoma.
research Ovarian Hyperthecosis Presenting as Polycythemia
Ovarian hyperthecosis can cause polycythemia, and surgery can normalize symptoms.