11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
1 citations
,
September 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing Dicer from pigment cells in newborn mice causes early hair graying and changes in cell migration molecules.
9 citations
,
October 2008 in “British Journal of Dermatology” The growth of the Epstein-Barr virus in the patient's cells was linked to the worsening of her lymphoma.
22 citations
,
November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
9 citations
,
January 2015 in “Medical hypotheses” TCDD disrupts skin stem cells, causing skin issues like chloracne.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
1 citations
,
June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
July 2024 in “Journal of Investigative Dermatology” Targeting TCR-Vβ2 in cutaneous T cell lymphoma shows promise for safer, more specific treatment.
158 citations
,
December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
1 citations
,
October 2017 in “ecancermedicalscience” Breast cancer alters specific molecular structures in hair, which revert after cancer removal.
2 citations
,
January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
29 citations
,
December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
42 citations
,
April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
37 citations
,
January 1986 in “Carcinogenesis” ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.
April 2023 in “Journal of Investigative Dermatology” An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
3 citations
,
August 2014 in “Journal of The American Academy of Dermatology” Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.
31 citations
,
October 2010 in “BMB Reports” L-threonate may help prevent balding by blocking a key protein.
70 citations
,
December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
March 2025 in “Institutional Repositories DataBase (IRDB)” 25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.