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Research 361–390 of 1000+
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
- Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
- An in vivo method for the detection of somatic mutations at the cellular level in mice
- Expression analysis of KAP9.2 and Hoxc13 genes during different cashmere growth stages by qRT-PCR method
- Birt-Hogg-Dube Syndrome with a Novel Mutation in the <i>FLCN</i> Gene
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Bioinformatics analysis of evolutionary characteristics and biochemical structure of FGF5 Gene in sheep
- Efficacy and safety of glucocorticoids in the treatment of progressive muscular dystrophy in children: a systematic review and meta-analysis
- Novel missense mutation in the EDA gene in a family affected by oligodontia
- Genetic analysis of 5 α reductase type 2 enzyme in relation to oxidative stress in cases of androgenetic alopecia in a sample of egyptian population
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
- A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
- Distinguishing Mouse Strains by Proteomic Analysis of Pelage Hair
- A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
- Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- SlPHL1, a MYB‐CC transcription factor identified from tomato, positively regulates the phosphate starvation response
- Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner
- Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
- Molecular Genetics of Alopecias
- A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
- Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis