4 citations
,
September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
4 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
1 citations
,
February 2009 in “Clinical Genetics” This study identified new genetic variants on chromosome 20p11 associated with male pattern baldness.
December 2023 in “International journal of molecular sciences” This in vitro study found sex chromosome differences affect steroidogenic enzyme activity and androgen receptor expression in human skeletal muscle cells, showing varied responses to testosterone exposure between 46XY and 46XX cells.
December 2010 in “Vestnik dermatologii i venerologii” This article reviews molecular and genetic mechanisms in the development of androgenic alopecia and examines the relationship between androgen receptor gene polymorphism and androgen-dependent diseases, but reports no new clinical results.
In this study, the authors reported that certain SNPs on chromosome 20 were associated with androgenetic alopecia in the ethnic Han population of Yunnan, with specific alleles linked to higher likelihood of developing the condition.
38 citations
,
February 1988 in “Molecular and Cellular Biology” This study found that among the two highly homologous K16 genes on chromosome 17, only one produced a functional protein due to stronger promoter activity.
14 citations
,
September 1999 in “Mammalian genome” In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.
3 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.
November 2024 in “Forensic Sciences” This review highlights the potential for using the Y chromosome in epigenetic analyses to better understand male-specific aging and disease mechanisms.
February 2024 in “Future science OA” This commentary highlights that the loss of the Y chromosome may disrupt UTY/TLE1-RUNX1 interactions, potentially impacting male hematopoietic cell development and leading to conditions like acute myeloid leukemia and T-cell acute lymphoblast leukemia.
2 citations
,
August 2020 in “CRC Press eBooks” This article discusses the impact of the tabby mutation on secondary vibrissae and hair follicle patterns in mice and reports no new clinical results.
36 citations
,
September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
62 citations
,
April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
13 citations
,
April 2024 in “International Journal of Molecular Sciences” This literature review highlights the importance of understanding the mechanisms behind the gradual mosaic loss of the Y chromosome (mLOY) in men, its association with various health conditions like cardiovascular diseases and cancer, and its potential as a marker for age inference.
10 citations
,
July 2022 in “BMC Biology” This review discusses how sex-limited chromosomes can affect non-reproductive traits in various sex determination systems and reports no new empirical results.
January 2026 in “Immunological Reviews” This review discusses sex differences in immune responses and highlights mechanisms involving sex hormones, X-linked genes, and X-Chromosome Inactivation, but reports no new clinical findings.
5 citations
,
August 2023 in “G3 Genes Genomes Genetics” This study developed an improved reference genome for the African spiny mouse using long Nanopore sequencing reads, potentially aiding future research into the species' remarkable tissue regeneration capabilities.
4 citations
,
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study presents an improved reference genome for the African spiny mouse, which may aid in understanding its tissue regeneration at the molecular level.
April 2011 in “Vestnik dermatologii i venerologii” This study found an association between 'short' CAG repeats in the androgen receptor gene and increased non-random X chromosome inactivation in women with androgenic alopecia.
7 citations
,
May 2005 in “Experimental Dermatology” This study reports that two mouse models of scarring alopecia exhibit similar patterns of hair loss progression despite histological differences in inflammatory cell localization and MHC class I expression.
140 citations
,
October 2008 in “Nature Genetics”
19 citations
,
October 1971 in “The BMJ” Anticonvulsant drugs may cause temporary chromosomal abnormalities.
70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
53 citations
,
October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
47 citations
,
September 2004 in “Journal of Biological Chemistry” This study provides evidence supporting a regulatory relationship between the transcriptional regulator Hoxc13 and Krtap16 genes, which are crucial for proper hair growth in mice.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.
92 citations
,
February 2005 in “Journal of Investigative Dermatology”