January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
126 citations
,
October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
37 citations
,
January 1993 in “Journal of Investigative Dermatology”
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
18 citations
,
June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
January 2024 in “Animals” Circular RNA ERCC6 helps activate stem cells important for cashmere goat hair growth by interacting with specific molecules in an m6A modification-dependent way.
4 citations
,
November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
April 2017 in “Journal of Investigative Dermatology” PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
21 citations
,
December 1994 in “Journal of Investigative Dermatology” 8 citations
,
February 2024 in “Matrix Biology”
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
5 citations
,
September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
9 citations
,
July 2022 in “EMBO molecular medicine” Blocking certain immune signals can reduce skin damage from radiation therapy.
19 citations
,
November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
April 2016 in “Journal of Investigative Dermatology” Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
106 citations
,
March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
65 citations
,
March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.