research Alterations in Endogenous Retinoids with Acute UVB Exposure and in the Progression of Cutaneous Squamous Cell Carcinoma
UVB exposure affects retinoid metabolism, which is important for skin cancer progression and treatment.
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810-840 / 1000+ resultsresearch Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Gastrointestinal Manifestation of Systemic Lupus Erythematosus - Lupus Enteritis
Lupus enteritis is a rare but serious gut inflammation in lupus patients, often hard to diagnose without prior lupus symptoms.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Alopecia areata incognito: A rare cause of hair loss in children
Alopecia areata incognito in children can be effectively treated with triamcinolone acetonide and supplements, leading to full hair regrowth.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research The protease corin regulates electrolyte homeostasis in eccrine sweat glands
Corin helps control salt and sweat release in sweat glands.
research Tamoxifen-induced androgenetic alopecia in a dialysis patient with sclerosing encapsulating peritonitis (SEP)
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Acitretin-Induced Repigmentation of Gray Hair: A Case Report
Acitretin treatment unexpectedly darkened a patient's gray hair.
research MINOXIDIL INDUCED PLEURO-PERICARDIAL EFFUSION IN END-STAGE RENAL DISEASE
research Cystatin M/E Is a High Affinity Inhibitor of Cathepsin V and Cathepsin L by a Reactive Site That Is Distinct from the Legumain-binding Site
Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
research Ishige sinicola extract stimulates osteoblast proliferation and differentiation via the bone morphogenetic protein 2/runt-related gene 2 signalling pathway
Ishige sinicola extract helps bone-building cells grow and mature, which could aid in treating osteoporosis.
research A Case of Proliferative and Membranous Lupus Nephritis Complicated by Cryoglobulin-like Hyaline Thrombi
Lupus nephritis can cause severe kidney and blood vessel problems.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
research Uncombable hair improved by biotin
Biotin supplements significantly improved a young girl's uncombable hair.
research Resolution of refractory generalized granuloma annulare after treatment with alitretinoin
Alitretinoin helped clear up a skin condition called generalized granuloma annulare in an elderly man.
research Rosacea-Like Dermatitis Caused by Icotinib Hydrochloride: A Case Report
A man developed skin issues from cancer medication, which improved with specific treatments.
research [Acitretine].
Acitretin treats severe skin conditions but requires careful monitoring due to serious side effects.
research Purpura Associated with Lithium Intoxication
Lithium can cause skin discoloration even at normal levels, so monitor for signs of intoxication.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Zinc and copper levels in rat hair following nickel administration.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population
The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.