10 citations
,
August 2020 in “Drug metabolism and drug interactions” The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
August 2024 in “Clinical Case Reports” Pilomatricoma is a rare, benign skin tumor that requires surgical removal for best results.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
59 citations
,
May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
2 citations
,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” miR-29 is a key factor that accelerates aging.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
November 2021 in “International Journal of Trichology” Low PON1 levels may indicate and predict the severity of hair loss.
April 2024 in “Journal of pharmacy & pharmacognosy research” A compound from Calophyllum inophyllum L. leaf may help treat non-small cell lung cancer.
57 citations
,
January 2020 in “International Journal of Molecular Sciences” PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
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.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
November 2025 in “Journal of Investigative Dermatology” Tanning ability is linked to specific DNA changes in skin genes.
Melatonin shortens the hair growth cycle by increasing PDGFA gene expression.
2 citations
,
January 2010 13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
August 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Longer immunotherapy treatment may improve outcomes for Merkel cell carcinoma patients.
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
43 citations
,
December 2020 in “PLOS Genetics” New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
1 citations
,
September 2017 C-scores can help predict gain-of-function and loss-of-function mutations.
62 citations
,
March 2008 in “American Journal of Human Genetics” Hair loss gene found on chromosome 3q26.
9 citations
,
January 2015 in “Current problems in dermatology” Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
August 2010 in “Journal of Investigative Dermatology” New hair regrowth model introduced, imiquimod kills skin cancer cells, T-cadherin loss makes skin cancer more invasive, no strong link between PTCH1 gene and skin cancer after transplant, and male teens more likely to have hereditary hair loss.
4 citations
,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
24 citations
,
May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.
9 citations
,
July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.