research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
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research Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
TRPV3 could be a target for treating pain, skin disorders, and hair problems, but more research is needed to create effective drugs.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Comprehensive Administrative and Engineering Strategies for Radiation Protection and Occupational Health Safety
Implementing safety strategies is crucial to prevent radiation-related health issues.
research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research Editorial: Inflammation, stem cells and wound healing in skin aging
Aging skin is affected by inflammation, reduced stem cell function, and slower wound healing.
research [Translated article] Keys to the Diagnosis of Hair Shaft Disorders: Part II
Hair shaft disorders, often due to genetics or environment, lack specific treatments but can be managed with gentle hair care and may improve with age or topical treatments.
research Review of Keratin Disorders
Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Types I and II Keratin Intermediate Filaments
Keratins are crucial for cell structure, growth, and disease risk.
research Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Genome‐wide association study identifies variants associated with hair length in Brangus cattle
Scientists found genes linked to hair length in Brangus cattle that could help breed heat-tolerant cattle.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Skin Stem Cells: At the Frontier Between the Laboratory and Clinical Practice. Part 1: Epidermal Stem Cells
Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Central Centrifugal Cicatricial Alopecia (CCCA)
CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report
Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
research Genetics of thyroid lesions updated
RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research The character “hairless” in the mouse
Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.
research Use of Induced Pluripotent Stem Cells in Dermatological Research
iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
research Immune-Molecular Link between Thyroid and Skin Autoimmune Diseases: A Narrative Review
Thyroid and skin autoimmune diseases share genetic and immune links, affecting both tissues.