April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
September 2022 in “The American Journal of Dermatopathology” Blocking IL-17 might help treat the hair loss condition Lichen planopilaris.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
April 2019 in “Journal of Investigative Dermatology” Lichen planopilaris involves disrupted fat metabolism, increased scarring, and mast cell activity.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
155 citations
,
June 2009 in “International Journal of Dermatology” Lichen planus is a skin condition that can resolve on its own, is linked to hepatitis C, and increases the risk of skin cancer.
March 2026 in “Folia Histochemica et Cytobiologica” LTBP1 is a key regulator in diseases and a potential target for new treatments.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
19 citations
,
May 2018 in “Molecular Medicine Reports” miR‑339‑5p can slow down hair follicle stem cell differentiation by targeting DLX5.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
54 citations
,
October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.
48 citations
,
April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Mitochondrial dysfunction may contribute to chronic inflammation and immune system issues in Lichen planopilaris.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
19 citations
,
May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
21 citations
,
August 2007 in “Experimental Dermatology” Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
April 2017 in “Journal of Investigative Dermatology” Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
202 citations
,
August 2017 in “Nature cell biology” Lactate production is important for activating hair growth stem cells.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.