Search
for
Sort by
Research 751–780 of 1000+
- Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
- 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
- Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
- The role of mutations on gene AR, in androgenetic alopecia syndrome
- Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
- A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
- Influence of TRPV3 mutation on hair growth cycle in mice
- Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
- A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
- Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5
- Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation
- A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
- <i>De novo</i> mutation in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene (A3243G) with rapid segregation resulting in MELAS in the offspring
- FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
- Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution?
- Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
- Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
- A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
- Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in <i> KRT 5 </i>
- Identification of Somatic <i>KRAS</i> Mutation in a Korean Baby with Nevus Sebaceus Syndrome
- Cutaneous gain-of-function mutation of LRIG3 leads to alopecia by upregulation of ERBB, PI3K/AKT, NOTCH1 signaling pathways
- Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with <i>AIRE</i> gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib
- Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
- SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
- Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
- Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
- Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation