5 citations,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
21 citations,
November 2017 in “Livestock science” Nellore cattle have genetic variations linked to their adaptation to tropical environments.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
1533 citations,
October 2008 in “Endocrine reviews” Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
145 citations,
May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
119 citations,
July 2016 in “Annals of the New York Academy of Sciences” Vitamin D has potential benefits for cancer prevention, heart health, diabetes, obesity, muscle function, skin health, and immune function, but clinical results are mixed and more research is needed.
118 citations,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
15 citations,
September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
12 citations,
March 2011 in “Journal of pathology” Oncogenic K-ras causes rapid cancerous changes in the mouth's lining.
8 citations,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
3 citations,
September 2019 in “PLOS ONE” Genetic variations affect dutasteride treatment response for male pattern hair loss.
3 citations,
January 2010 in “Elsevier eBooks” The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
2 citations,
November 2019 in “Cancer reports” The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
Wild African goats have genetic adaptations for surviving harsh desert conditions.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
April 2015 in “Andrology” HNG may help prevent the negative effects of chemotherapy on sperm production and white blood cell counts.
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.
8 citations,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
22 citations,
July 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
9 citations,
August 2021 in “International journal of molecular sciences” PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
January 2023 in “Annali di stomatologia” PRP helps heal and repair tissues in medicine but needs more research for better use.
10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
44 citations,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.