9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
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.
11 citations
,
May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
52 citations
,
April 2012 in “Journal of Investigative Dermatology” KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
April 2025 in “Annals of Medicine” CRH can cause hair loss by promoting cell death in hair growth cells.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
2 citations
,
June 2024 in “Frontiers in Plant Science” LLPS is crucial for RALF signaling, aiding plant growth and stress resilience.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
59 citations
,
November 2011 in “Development” Trps1 is essential for proper hair follicle development.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
21 citations
,
January 1995 in “Molecular Biology Reports” Scientists discovered two versions of a new human hair keratin gene.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
9 citations
,
November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
57 citations
,
May 2014 in “Molecular Phylogenetics and Evolution” The research found how GPCR Class A Rhodopsin receptors are related and suggested possible substances they interact with.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
November 2022 in “Journal of Investigative Dermatology” Growth hormone-releasing hormone (GHRH) boosts hair growth and human scalp hair follicles have their own growth hormone system.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
216 citations
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June 2015 in “PLANT PHYSIOLOGY” OsPHR3 can help breed rice that efficiently uses phosphate without growth issues.
1 citations
,
January 2015 in “Journal of clinical and investigative dermatology” IGF-1 from human placenta helps hair grow.