100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
34 citations
,
January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
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.
30 citations
,
May 1999 in “Food and chemical toxicology” This study suggests that topical procyanidin B-2 is safe for use as a hair growth agent, as it showed no mutagenic effects or significant irritation in a series of toxicological tests.
114 citations
,
May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
89 citations
,
October 1996 in “Dermatologic Clinics” This review discusses androgenetic alopecia and alopecia areata through a systems biology lens, emphasizing the role of multi-omics data integration to explore molecular mechanisms and potential therapeutic strategies, but offers no new clinical results.
53 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.
April 2016 in “Journal of The American Academy of Dermatology” People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
This abstract reviews published cases indicating a potential association between alopecia areata and Down syndrome, with no new clinical results.
717 citations
,
June 2010 in “Nature” This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
7 citations
,
July 2019 in “Animals” This study identified a new ovine KRTAP21-1 gene variant in sheep, with wool yield affected by the variant, suggesting its potential as a genetic marker for improving wool production.
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.
22 citations
,
January 2021 in “Clinical Therapeutics” This review discusses sex and gender differences in COVID-19 presentation, treatment, and outcomes, and reports no new clinical findings.
21 citations
,
September 1997 in “British Journal of Dermatology” This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.
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.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
7 citations
,
July 2018 in “Stem cell research” This study reported that reprogramming keratinocytes from plucked hair provides an easy, non-invasive, and efficient method for generating pluripotent iPSCs without the need for medical professionals or operating rooms.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
September 2021 in “Physiology News” This abstract provides template specifications for design materials but reports no new research findings.
3 citations
,
October 2024 in “Animals” This study identified three genes in the ovine KAP13 family on chromosome 1 and found that a specific allele of KRTAP13-2 is associated with improved wool fibre diameter uniformity in Chinese Tan sheep, suggesting its potential use as a marker for enhancing wool traits.
14 citations
,
June 2024 in “Clinical Reviews in Allergy & Immunology” This review highlights a higher prevalence of autoimmune disorders such as thyroid disease, celiac disease, alopecia areata, and vitiligo among individuals with Down syndrome compared to the neurotypical population, suggesting intrinsic immune dysregulation linked to chromosome 21.
25 citations
,
September 2014 in “SpringerPlus” This study found that sheep possess a polymorphic KAP8-2 gene that shares high sequence identity with the KAP8-2 gene in goats and reindeer.
November 1966 in “British Journal of Dermatology” This conference proceeding abstract provides no new research results, focusing only on event details from the British Association of Dermatology's Forty-Sixth Annual Meeting held in Oxford in 1966.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Robertsonian chromosomal translocations and their prevalence in the population, highlighting their association with infertility, and reports no new clinical results.
1 citations
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May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
5 citations
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May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.