August 2019 in “Research Square (Research Square)” Certain long non-coding RNAs in cashmere goats affect hair growth when treated with a specific growth factor.
1 citations
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January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
3 citations
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February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” GATA6 is important for maintaining and differentiating cells in a key area of human skin.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
October 2023 in “Pediatric blood & cancer” Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
175 citations
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August 1997 in “Nature Genetics” January 2026 in “Biomolecules” TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
7 citations
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
5 citations
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September 2021 in “Journal of Molecular Histology” LHX2, with other markers, can identify hair placodes in rats.
May 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The research mapped diverse cell types in mouse lacrimal glands, aiding understanding of gland biology and diseases.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
1 citations
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January 2013 January 2022 in “Exclusive Real World Evidence Journal” A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
Early recognition and aggressive treatment can significantly improve rare ANA-negative lupus with heart and skin issues.
4 citations
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July 2017 in “Journal of Medical Case Reports” The 2012 criteria are better for diagnosing atypical lupus cases.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.