research FoxN1 in K14 Promoter-Driven Epithelium Is Required for Generation and Maintenance of 3D-Thymus Medulla and Preventing Nude Phenotype in the Skin
FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
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210-240 / 1000+ resultsresearch Characterization of the Epidermal-Dermal Junction in hiPSC-Derived Skin Organoids
The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
research Challenges in Treatment of Patients With Non-Classic Congenital Adrenal Hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Network Analysis Reveals Potential Mechanisms That Determine the Cellular Identity of Keratinocytes and Corneal Epithelial Cells Through the Hox/Gtl2-Dio3 miRNA Axis
Hox proteins help maintain keratinocyte identity by regulating miRNA expression.
research Monilethrix: Case Report of a Rare Disease
Monilethrix causes fragile, patchy hair loss.
research The Developmental Basis of Fingerprint Pattern Formation and Variation
Fingerprints form uniquely before birth due to specific genetic pathways and local signals.
research Opposing Impacts on Healthspan and Longevity by Limiting Dietary Selenium in Telomere Dysfunctional Mice
Low selenium levels can extend lifespan but worsen health issues.
research Approach to Androgen Excess in Women: Clinical and Biochemical Insights
The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research The Multifaceted Functions of TRPV4 and Calcium Oscillations in Tissue Repair
TRPV4 helps cells repair tissue and reduce scarring by controlling calcium levels.
research Non-Biologic Immunosuppressive Drugs for Inflammatory and Autoimmune Skin Diseases
Non-biologic immunosuppressive drugs are crucial for treating autoimmune and chronic inflammatory skin diseases.
research Reshaped DNA Methylation Cooperating with Homoeolog-Divergent Expression Promotes Improved Root Traits in Synthesized Tetraploid Wheat
DNA changes in tetraploid wheat improve root growth and nitrogen use.
research Novel Presentation of a Heterozygous INSR Mutation and Markedly Elevated Testosterone Levels in a Pediatric Patient: A Case Report
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Phenotypic Variability Associated with WNT10A Nonsense Mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Sebaceous Carcinoma Arising at a Chronic Candidiasis Skin Lesion of a Patient with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.