40 citations
,
August 2018 in “Disease Models & Mechanisms” Mature cells can re-enter the cell cycle and potentially lead to cancer.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
39 citations
,
May 2011 in “Human Immunology” Genetics play a role in acne, but how exactly they contribute is not fully understood.
36 citations
,
March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
35 citations
,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
34 citations
,
September 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Gene therapy shows promise for treating hair loss by targeting hair follicles.
33 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
32 citations
,
May 2016 in “European journal of dermatology/EJD. European journal of dermatology” Targeted therapies for advanced skin cancer often cause hair and nail problems, which need managing to avoid changing the treatment dose.
32 citations
,
May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
31 citations
,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
29 citations
,
July 2013 in “Journal of Investigative Dermatology” UV radiation causes skin cancer, but sunscreens and certain drugs can help prevent it.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
25 citations
,
August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
24 citations
,
July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
23 citations
,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
22 citations
,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
21 citations
,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
21 citations
,
January 2020 in “General and Comparative Endocrinology” Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
21 citations
,
November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
20 citations
,
May 2016 in “Journal of Cosmetic Dermatology” Low vitamin D receptor levels found in hair loss patients; topical vitamin D treatment suggested.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
19 citations
,
June 2020 in “BMC Cancer” Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.