Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
33 citations
,
December 2015 in “International Journal of Molecular Sciences” Melanocyte stem cells are crucial for skin pigmentation and have potential in disease modeling and regenerative medicine.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
7 citations
,
January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
29 citations
,
July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
33 citations
,
September 1990 in “Proceedings of the National Academy of Sciences” The study showed that a specific DNA sequence can control gene expression in hair growth areas of mice.
27 citations
,
August 1984 in “Experimental and Molecular Pathology” 6 citations
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January 2011 in “European Journal of Dermatology” It's important to consider genetic hair disorders when diagnosing hair loss.
19 citations
,
January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
28 citations
,
July 2005 in “Journal of Investigative Dermatology” Sca-1+ cells in newborn mouse skin may become fat cells.
29 citations
,
January 2013 in “International Journal of Medical Sciences” Wnt10b helps hair follicle cells mature and produce pigment.
17 citations
,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
TBX3 gene affects horse coat color, with higher expression in darker areas.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
1 citations
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June 2014 in “International Journal of Dermatology” Pregnancy can trigger follicular mucinosis, which may resolve after delivery.
14 citations
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March 2016 in “Mechanisms of Development” Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
67 citations
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November 2019 in “Nature Communications” Oncogenic melanocyte stem cells can develop into melanoma similar to human cases.
1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
46 citations
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November 2014 in “Journal of Cutaneous Pathology” Recognizing diverse presentations of folliculotropic mycosis fungoides is crucial to avoid diagnostic errors.
April 2023 in “Authorea (Authorea)” A young woman with a rare skin cancer was diagnosed late because her symptoms were unusual for the disease.
June 2025 in “British Journal of Dermatology” Premature canities is linked to low vitamin D and B12, family history, and higher MHR.
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Too much β-catenin activity can mess up the development of mammary glands and make them more like hair follicles.
1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
June 2026 in “International Journal of Medical Science and Dental Health” A new tool helps tailor treatments for hair loss in Type 2 Diabetes patients by considering gender differences in nutrient levels.