research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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330-360 / 1000+ resultsresearch Higher levels of hair EtG in patients with decreased kidney function
People with kidney problems have higher hair EtG levels.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Special collection on inward rectifying K+ channels
Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Nε-(carboxymethyl) lysine represses hair follicle formation by inhibiting Sonic hedgehog expression in a NF-κB-independent manner
Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
research Insulin resistance, nitric oxide, and fibrinogen levels in white hirsute women: Defining a new paradigm based on translational research
White hirsute women with PCOS have higher insulin resistance, but similar nitric oxide and fibrinogen levels compared to those with idiopathic hirsutism.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research Virilizing insulinoma
A rare pancreatic tumor caused a woman's male-like features, treated successfully with surgery and medication.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research The presence of insulin resistance and comparison of various insulin sensivity indices in women with androgenetic alopecia.
Women with androgenetic alopecia (AGA) are more insulin resistant than healthy women, with various insulin sensitivity indices being higher in the AGA group. An oral glucose tolerance test is suggested for women with AGA.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research BH10 Nailing the diagnosis
Consider amyloidosis in patients with specific nail changes and check for systemic issues.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research A rare case of woolly hair with unusual associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Compendium of polycystic ovarian syndrome and its relevance in glycation and diabetes
PCOS is linked to diabetes and insulin resistance, and managing AGEs may help treat related symptoms.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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.