research Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26
Hair loss gene found on chromosome 3q26.
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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 Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research LHX2: a transcription factor in development, homeostasis, repair, and disease
LHX2 is crucial for development, tissue repair, and preventing diseases.
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 A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
research Imprinted Dlk1-Gtl2 cluster miRNAs are potential epigenetic regulators of lamb fur quality
miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
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 BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research 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 Editor's evaluation: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research PolyQ length co-evolution in neural proteins
PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep linked to traits like milk production, growth, and health.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Long non-coding RNA Xist contribution in systemic lupus erythematosus and rheumatoid arthritis
Females are more prone to lupus and arthritis due to X chromosome factors.
research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality
DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
research KRT72 wt Allele
KRT72 gene helps form hair.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Finding bald spots on chromosome 20p11
New genes linked to male pattern baldness were found on chromosome 20p11.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.