5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
April 2026 in “Amino Acids” Polyamines are crucial for skin tumor development, and inhibiting them can prevent tumors.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
K15 and Id3 are important in hair follicle regeneration, with K15 increasing in early stages and Id3 responding later.
September 2023 in “Plant journal” A protein called GIS3 is important for the growth of root hairs in Arabidopsis by controlling two genes with the help of certain growth signals.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
19 citations
,
January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
January 2009 in “China Animal Husbandry & Veterinary Medicine” The B2C promoter works in sheep cells but not in mouse embryos.
18 citations
,
October 2009 in “Endocrinology” Different Hairless isoforms affect Vitamin D receptor activity in hair regulation, with one repressing and the other stimulating it.
January 2014 in “China Animal Husbandry & Veterinary Medicine” The KAP8-1 gene affects skin, hair follicle development, and wool quality in different sheep varieties.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
January 2004 in “Molecular biotechnology”
6 citations
,
July 2023 in “Nature cell biology” SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.
2 citations
,
June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
72 citations
,
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.
July 2024 in “Journal of Investigative Dermatology” Recombinant human TSG-6 speeds up wound healing in diabetic mice.
32 citations
,
January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
15 citations
,
May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
13 citations
,
August 1985 in “The Journal of Dermatology” HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
387 citations
,
November 2003 in “Journal of Investigative Dermatology” The K15 promoter effectively targets stem cells in the hair follicle bulge.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
September 2009 in “Encyclopedia of Life Sciences” The KRTAP gene family helps understand hair evolution and hair disorders.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.