Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
61 citations
,
February 1997 in “Differentiation” Hair differentiation starts earlier than thought, involving multiple type-II keratins.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
3 citations
,
January 2020 in “Indian Journal of Dermatology” Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
10 citations
,
August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
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.
3 citations
,
January 2025 in “动物学研究” The gene GJA1 is important for regulating coarse hair density in goats.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
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.
159 citations
,
October 1986 in “The Histochemical Journal” Vitamin D receptor actions without binding are crucial for healthy skin and hair.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
13 citations
,
December 2005 in “Traffic” Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
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7 citations
,
February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting impaired Nrf2 signaling might help treat hidradenitis suppurativa early on.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
51 citations
,
December 2006 in “Mammalian Genome” 1 citations
,
November 2024 in “European Journal of Endocrinology” Higher childhood DHEAS levels are linked to advanced puberty and DNA changes.
11 citations
,
January 1997 in “Journal of Dermatological Science” A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
1 citations
,
September 2020 in “Journal of Dermatological Science” The gene LRRC15 is more active in balding areas of the scalp compared to non-balding areas.
January 2025 in “International Journal of Molecular Sciences” Non-liganded Vitamin D Receptor is crucial for healthy skin and hair.
29 citations
,
October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
45 citations
,
March 1997 in “Journal of Investigative Dermatology”