research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
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research Comprehensive whole-genome resequencing unveils genetic diversity and selective signatures of the Xiangdong black goat
Xiangdong black goats have moderate genetic diversity, minimal inbreeding, and important genes for reproduction, immunity, and other traits.
research Sequence of a Cashmere goat type I hair keratin gene and its expression in skin
The Cashmere goat hair keratin gene is crucial for hair structure.
research Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin in the hair follicle.
Trichohyalin in sheep hair follicles may help with structure and calcium binding.
research Expression analysis of the type I keratin protein keratin 33A in goat coat hair
Keratin 33A is a key protein in goat winter coats, especially in high-producing breeds.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research Transcriptome sequencing reveals the expression profiles of lncRNAs and mRNAs in goat skin tissues with different types of wool coats
The study identified key genes and pathways that influence goat wool quality and growth.
research Canonical prolactin signaling and global mRNA expression in the skin of Holstein heifers carrying the SLICK1 allele of the prolactin receptor gene
The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research Bioinformatics analysis of evolutionary characteristics and biochemical structure of FGF5 Gene in sheep
Editing the FGF5 gene in sheep increases wool length, confirming its role in hair growth.
research RNA sequencing reveals lncRNA-mediated non-mendelian inheritance of feather growth change in chickens
Long non-coding RNAs affect feather growth in chickens in ways that don't follow traditional genetic rules.
research Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds
Certain genes in Iranian sheep are linked to wool production and heat adaptation.
research Identification of the Ovine Keratin-Associated Protein 22-1 (KAP22-1) Gene and Its Effect on Wool Traits
The gene KAP22-1 affects wool yield and fiber shape in sheep.
research Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study
The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Structure of human type II 5 alpha-reductase gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Alpaca (Vicugna pacos) Skin Analyzed Under Architecture and Structure
Alpaca skin has glands, hair follicles, and different collagen types.
research Identification of genes and proteins associated with anagen wool growth
Researchers identified key genes and proteins linked to wool growth in sheep.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris
Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Identification of functional circRNAs regulating ovarian follicle development in goats
circCFAP20DC helps goat ovarian cells grow, aiding follicle development.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Protein and amino acid composition of hair from mice carrying the naked (N) gene
The N gene affects the protein makeup of mouse hair.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.