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Research 511–540 of 1000+
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Transcriptome Profiling and Differential Gene Expression in Canine Microdissected Anagen and Telogen Hair Follicles and Interfollicular Epidermis
- Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
- Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
- Analysis of differential expression of hair follicle tissue transcriptome in Hetian sheep undergoing different periodic changes
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
- An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
- Decay of Skin-Specific Gene Modules in Pangolins
- Comparative Skin Transcriptomics Reveals Key Regulators of Cashmere Fiber Production in Inner Mongolian Goats
- The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
- Circ 0020938 inhibits hair follicle stem cells proliferation via the miR-142-5p/DSG4 axis in cashmere goats
- Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
- Biomedical applications of organoids in genetic diseases
- E-Poster
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
- Decision letter: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
- Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
- Delineation of Matriptase Protein Expression by Enzymatic Gene Trapping Suggests Diverging Roles in Barrier Function, Hair Formation, and Squamous Cell Carcinogenesis
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- The circular RNA circNlgnmediates doxorubicin-inducedcardiac remodeling and fibrosis
- Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5
- <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
- Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
- Cornified Epithelial Teeth of Jawless Vertebrates Contain Proteins Similar to Keratin-Associated Proteins of Mammalian Skin Appendages
- The JAK/STAT signaling pathway: from bench to clinic