23 citations
,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
9 citations
,
November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
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.
7 citations
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January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.