19 citations
,
April 1999 in “British Journal of Dermatology” Keratin 2e shows a unique pattern in developing fetal skin, different from other keratins.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
50 citations
,
October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
1 citations
,
October 2021 in “Clinical, Cosmetic and Investigational Dermatology” Vitamin B3 may help prevent hair loss and promote hair growth by protecting scalp cells from stress and reducing hair growth-blocking proteins.
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.
45 citations
,
March 2001 in “Journal of Investigative Dermatology” A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
76 citations
,
January 1998 in “Mammalian Genome” January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
5 citations
,
June 2008 in “British Journal of Dermatology” 10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
18 citations
,
January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
24 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.
July 2022 in “Journal of Investigative Dermatology” Dkk4 is necessary for the initial development and arrangement of hair follicles.
18 citations
,
February 1992 in “Molecular Biology Reports” A specific type II hair keratin was identified and found in hair cortex and tongue cells.
10 citations
,
September 2021 in “The FASEB Journal” ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
4 citations
,
April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
December 2000 in “日本組織細胞化学会総会プログラムおよび抄録集”