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research Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

8 citations , July 2015 in “International Journal of Dermatology”

A new DSG4 gene mutation causes hair defects in a young girl.

research High-throughput T cell receptor sequencing identifies clonally expanded CD8+ T cell populations in alopecia areata

46 citations , October 2018 in “JCI insight”

CD8+ T cells are involved in alopecia areata and may cause disease relapse.

research Molecular cloning of two novel types of peptidylarginine deiminase cDNAs from retinoic acid‐treated culture of a newborn rat keratinocyte cell line

39 citations , August 1998 in “FEBS Letters”

Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.

Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

research Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza

8 citations , December 2020 in “Scientific reports”

Selective breeding caused the unique curly hair in Mangalitza pigs.

research KRT72 wt Allele

February 2020 in “Definitions”

KRT72 gene helps form hair.

research Analysis of Copy Number Variation in the Whole Genome of Normal-Haired and Long-Haired Tianzhu White Yaks

9 citations , December 2022 in “Genes”

CNVs influence hair length in Tianzhu white yaks.

research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing

October 2023 in “Psychiatry research. Case reports”

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

research This Month in the Journal

July 2005 in “The American Journal of Human Genetics”

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.

research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

74 citations , October 2012 in “The American Journal of Human Genetics”

Mutations in the HOXC13 gene cause hair and nail development issues.

research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

49 citations , June 2019 in “eLife”

Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.

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