62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
175 citations
,
August 1997 in “Nature Genetics” NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
75 citations
,
July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
22 citations
,
July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Krox20 is important for maintaining stem cells in the skin and affects hair growth and color.
43 citations
,
April 1996 in “Journal of Investigative Dermatology” November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
January 2017 in “Clinical & medical biochemistry” Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
1 citations
,
January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
50 citations
,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
35 citations
,
September 1994 in “Journal of Investigative Dermatology” January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
March 2026 in “The Indian Journal of Animal Sciences” All Indian dromedary camel breeds have the same KRTAP7 gene affecting hair quality.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
119 citations
,
August 2008 in “BMC Evolutionary Biology” KRTAP genes evolved early in mammals, leading to diverse hair traits.