16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
10 citations
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February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
1 citations
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December 2012 in “Journal of Dermatological Science” FGF18 controls hair growth rest phase.
2 citations
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July 2022 in “Frontiers in Veterinary Science” A female dog with mixed male and female traits was treated successfully with surgery.
8 citations
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June 1981 in “Clinica Chimica Acta” September 2005 in “Revue de Stomatologie et de Chirurgie Maxillo-faciale” 31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
1 citations
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December 2020 in “International journal of molecular sciences” External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
April 2018 in “Journal of Investigative Dermatology” The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
18 citations
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.
7 citations
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January 2011 Collagen XVIII is crucial for maintaining tissue structure and function in the brain, kidneys, and hair.
119 citations
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September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
3 citations
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April 2024 in “Molecular Human Reproduction” Paxillin may help manage androgen-related disorders like PCOS by stabilizing androgen receptor proteins.
16 citations
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April 2022 in “PLoS ONE” Certain microRNAs found in normal cells can effectively suppress various cancers.
30 citations
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October 1994 in “Journal of Cutaneous Pathology” Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
688 citations
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June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
A KRT32 gene variant causes loose anagen hair syndrome.
January 2022 in “Autopsy and Case Reports” A man had a non-cancerous neck tumor related to hair follicles removed with no return of the tumor.
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
1 citations
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December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
9 citations
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May 2021 in “Frontiers in Cell and Developmental Biology” DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
80 citations
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June 1997 in “The American Journal of Human Genetics” November 2020 in “UNC Libraries” Seven new genetic risk areas for prostate cancer were found.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.