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Research 271–300 of 866
- Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Biotinidase deficiency characterized by skin and hair findings
- Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
- Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
- Chrousos syndrome: from molecular pathogenesis to therapeutic management
- Beyond Expectations
- Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- Congenital Atrichia: A Case Report
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- Current Genetics in Hair Diseases
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
- Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
- Matriptase-2, A Novel Suppressor of Hepcidin.
- FGF5 is a crucial regulator of hair length in humans
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
- Recently Identified Forms of Epidermolysis Bullosa
- Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities