January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
60 citations
,
December 2003 in “Journal of Investigative Dermatology” K6hf is found in specific parts of hair follicles, nails, and tongue, and is linked to hair growth and structure.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
69 citations
,
December 2015 in “BMC plant biology” Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
4 citations
,
September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
11 citations
,
August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
April 2017 in “Journal of Investigative Dermatology” HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
8 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
5 citations
,
October 2017 in “Cellular Reprogramming” Inhibiting HSP90 increases cell adaptability and survival under stress.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
1 citations
,
March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
19 citations
,
July 1997 in “British Journal of Dermatology” LHTric-1 is a specific antibody useful for studying hair and nail formation.
46 citations
,
December 1992 in “Journal of Investigative Dermatology” Minoxidil decreases LH expression, while hydralazine has mixed effects on prolyl and lysyl hydroxylase activities.
7 citations
,
March 2024 in “Skin Research and Technology” miR-200c-3p could help diagnose and treat alopecia areata.
4 citations
,
September 2004 in “Experimental Dermatology” Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
41 citations
,
June 2016 in “Reviews in endocrine and metabolic disorders” Hidradenitis suppurativa may be related to hormones and patients often have metabolic disorders; more research is needed to understand this connection.
September 2025 in “Journal of Investigative Dermatology” SLC3A2 is crucial for hair follicle stem cell function and hair growth.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
2 citations
,
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.
April 2018 in “Journal of Investigative Dermatology” Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.