research Co-Expression Pattern of VEGFR-2 With Indicators Related to Proliferation, Apoptosis, and Differentiation of Anagen Hair Follicles
VEGFR-2 activation is likely involved in hair follicle growth, survival, and development.
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900-930 / 1000+ results research KCNQ Potassium Channels Modulate Sensitivity of Skin Down-Hair (D-Hair) Mechanoreceptors
KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
research South Asian Epidemic of Antifungal Therapeutic Failures: Congress Proceedings and Take-home Messages. First International Congress of SAARCUM: South Asian Alliance Against Recalcitrant Cutaneous Mycosis. 17 November 2018, Medanta – The Medicity, Gurugram, India
The congress concluded that misuse of antifungal drugs in South Asia has led to widespread treatment failure, and new approaches and regional cooperation are needed.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Molecular Genetic Dissection of ILVEN Leads to Successful Targeted Therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research CRISPR/Cas9-Based Targeted Genome Editing for Correction of Recessive Dystrophic Epidermolysis Bullosa Using iPS Cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
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 Clinical Case of Alopecia Totalis in Pediatric Practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research The Role of Histone Demethylases in Disease
Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
research Porokeratotic Eccrine Ostial And Dermal Duct Nevus And Porokeratotic Eccrine And Hair Follicle Nevus: Is Nomenclature 'Porokeratotic Adnexal Ostial Nevus' More Appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
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.
research Biological Significance of FoxN1 Gain-of-Function Mutations During T and B Lymphopoiesis in Juvenile Mice
FoxN1 overexpression in young mice harms immune cell and skin development.
research ATP-Dependent Chromatin Remodeling During Mammalian Development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Estrogen Functions in Skin and Skin Appendages
Oestrogens help maintain healthy skin, heal wounds, and may protect against skin aging and cancer.
research Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures
The study found that immune responses disrupt hair growth cycles, causing hair loss in alopecia areata.
research The Keratins and Their Disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.