research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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630-660 / 1000+ resultsresearch Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research 12-O-Tetradecanoylphorbol-13-acetate Induces Apoptosis in Renal Epithelial Cells through a Growth Signal Conflict Which Is Prevented by Activated ras1
Activated ras can protect kidney cells from a certain substance that causes cell death.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Fibrosing alopecia in a pattern distribution in two brothers with pili multigemini
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research In vivo multiphoton microscopy imaging of vitiligo (Conference Presentation)
Multiphoton microscopy helps understand and improve vitiligo treatments by visualizing skin cell changes.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Male-pattern baldness susceptibility locus at 20p11
Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research LB1681 Risk of merkel cell carcinoma progression after treatment discontinuation in patients with an objective response to anti-PD-(L)1 immunotherapy
Longer immunotherapy treatment may improve outcomes for Merkel cell carcinoma patients.
research Melanogenesis is coupled to murine anagen: Toward new concepts for the role of melanocytes and the regulation of melanogenesis in hair growth
Hair color production in mice is closely linked to the hair growth phase and may also influence hair growth itself.
research Hormone replacement therapy and the skin
Estrogen replacement can improve skin health in menopausal women but doesn't reverse sun damage or prevent hair loss.
research Alopecia areata: Clinical presentation, diagnosis, and unusual cases
Alopecia areata is a type of hair loss that can lead to complete baldness, often associated with other autoimmune conditions, and half of the cases may see hair return within a year.
research Melanogenesis Is Coupled to Murine Anagen: Toward New Concepts for the Role of Melanocytes and the Regulation of Melanogenesis in Hair Growth.
Hair color production is closely linked to the active growth phase of hair in mice and may also influence hair growth itself.
research Skin ageing
After menopause, women lose a lot of skin collagen, but estrogen replacement might improve skin health.
research The effect of a 1550 nm fractional erbium-glass laser in female pattern hair loss
Laser treatment increases hair density and thickness safely in women with hair loss.
research Androgen modulation of Wnt/β-catenin signaling in androgenetic alopecia
Androgens may block hair growth signals, targeting this could treat hair loss.
research Reflectance Confocal Microscopy of the Yellow Dot Pattern in Alopecia Areata
Reflectance confocal microscopy confirms that yellow dots are signs of damaged hair follicles in alopecia areata.