research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
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150-180 / 1000+ resultsresearch Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1
Two new gene clusters important for hair formation were found on human chromosome 11.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Current and prospective strategies for advancing the targeted delivery of CRISPR/Cas system via extracellular vesicles
Engineered extracellular vesicles could improve CRISPR/Cas delivery, making gene editing safer and more effective.
research Genetics of Vitiligo: A Review
Vitiligo is influenced by genetics and environment, and combining these factors can improve early detection and prevention.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
Chinese fine-wool sheep have genetic variations linked to traits like milk and health, with some genes under strong selection.
research 5α-Reductase underscores the development of pectoral fin breeding tubercles in zebrafish
The development of breeding tubercles in male zebrafish relies on a specific enzyme that processes hormones.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research What Is the Male Polycystic Ovary Syndrome Phenotype?
Men can have genetic risks for PCOS-related traits like obesity and diabetes.
research The Paradox of p53: What, How, and Why?
The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
research The biology of hair diversity
Hair diversity is influenced by complex genetics and environmental factors, requiring more research for practical solutions.
research The role of multiomics in revealing the mechanism of skin repair and regeneration
Multiomics helps understand and improve skin healing and repair.
research Concomitant presentation of alopecia areata in siblings: A rare occurrence
Two siblings both had a rare case of alopecia areata at the same time.
research Precocious Puberty: A Case Report
Early diagnosis and treatment with Leuprolide are key for children with precocious puberty.
research The pediatric origins of polycystic ovary syndrome
Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
research De novo assembly and annotation of Asiatic lion (Panthera leo persica) genome
The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
research The idiosyncratic genome of Korean long-tailed chicken as a valuable genetic resource
Korean long-tailed chickens have unique genes valuable for ornamental breeding.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Identification of Trichohyalin-Like 1, an S100 Fused-Type Protein Selectively Expressed in Hair Follicles
TCHHL1 is a protein important for hair growth, found in hair follicles.
research Transcriptomic analyses of regenerating adult feathers in chicken
Chicken feather growth involves specific genes and shares similarities with hair development.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Wool Keratin-Associated Protein Genes in Sheep—A Review
Understanding wool keratin-associated proteins in sheep can help improve wool quality through selective breeding.
research Cornified Epithelial Teeth of Jawless Vertebrates Contain Proteins Similar to Keratin-Associated Proteins of Mammalian Skin Appendages
Jawless vertebrates have teeth proteins similar to those in mammalian hair and nails.
research Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-associated Protein (KAP) Genes on Chromosome 21q22.1
Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.