January 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
April 2017 in “Journal of Investigative Dermatology” The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
January 2026 in “Human Mutation” T cell subsets are crucial in kidney cancer, and a new model predicts patient outcomes using key genes.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
111 citations
,
June 2002 in “The EMBO Journal” Too much Smad7 can cause serious changes in skin tissues, including problems with hair growth, thymus shrinkage, and eye development issues.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
88 citations
,
August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
4 citations
,
January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
19 citations
,
June 2020 in “BMC Cancer” Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
14 citations
,
October 2015 in “PLoS ONE” Keratin 14 is uniquely found in a specific group of placental cells.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
November 2024 in “Future Science OA” A rare benign ovarian tumor was found in a pregnant woman, but both mother and baby remained healthy.
January 2016 in “AACE Clinical Case Reports” Treatment restored normal sexual characteristics and blood condition in a patient with testicular cancer.
47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
1 citations
,
October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
24 citations
,
July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.