research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
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810-840 / 1000+ results research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research A Powerful Method for Pleiotropic Analysis Under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research Off-Label Uses of Retinoids in Dermatology
Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research The Role of Local and Systemic Leptin in Androgenetic Alopecia
Higher leptin levels link to hair loss.
research Acquired Trichomegaly of the Eyelashes and Hypertrichosis Induced by Bimatoprost
Bimatoprost can cause longer, thicker, darker eyelashes and eyebrows.
research Photobiomodulation as a Treatment in Dogs with Black Hair Follicular Dysplasia
Photobiomodulation effectively treats hair loss in dogs with black hair follicular dysplasia.
research Cutaneous Manifestations of Endocrine-Metabolic Disease and Nutritional Deficiency in the Elderly
Skin problems in older people can indicate hormonal diseases, nutritional deficiencies, or conditions like diabetes, menopause, and HIV.
research Successful Treatment of Sebaceous Adenitis in a Rabbit with Ciclosporin and Triglycerides
A rabbit with sebaceous adenitis was effectively treated with ciclosporin and medium-chain triglycerides.
research The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization
Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.
research Use of Ultra-Fast One-Step CK5 IHC for Identifying BCC and SCC During Mohs Surgery
A new one-step test can quickly identify skin cancer during surgery.
research Structural Changes in Human Skin After Topical Application of Glucocorticoids Assessed by In Vivo Imaging Technologies
Topical glucocorticoids thin the skin and change collagen structure.
research A Novel Small Compound HPH-15 Antagonizes TGF-β/Smad Signaling and Ameliorates Experimental Skin Fibrosis
HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
research Down-Regulatory Role of Cholecystokinin on Psoriatic Epidermal Inflammation
Cholecystokinin may help reduce skin inflammation in psoriasis.
research Deep Phenotyping of Patients with Xeroderma Pigmentosum and Trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
research Hirsutism: Diagnosis and Treatment
The document concludes that proper diagnosis and combined treatments are key for hirsutism management, and weight loss may help overweight patients.
research Acromegaloidism With Normal Growth Hormone Secretion Associated With X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Polycystic Ovary Syndrome in Adolescents
The document concludes that early diagnosis and treatment of PCOS in teenagers is important for managing symptoms and preventing long-term health problems.
research FGF5 Is a Crucial Regulator of Hair Length in Humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Efficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report
Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research Immunostaining Study of Cytokeratins in Human Hair Follicle Development
The study found that specific proteins are markers of hair follicle development in human fetuses.
research An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy
Gene linked to common hair loss found, may lead to new treatments.
research Phenotypic Variation in Biotinidase Deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Zinc in Skin Pathology and Care
Zinc can help with some skin problems, but its effectiveness varies depending on the condition.