3 citations,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
2 citations,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
158 citations,
January 2015 in “Artificial Intelligence in Medicine” DrugNet effectively identifies new uses for existing drugs and may save resources in drug development.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
September 2023 in “Frontiers in cell and developmental biology” Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
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.
13 citations,
April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
29 citations,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
9 citations,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
16 citations,
February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
4 citations,
November 2017 in “Scientific Reports” The research provides a gene-based framework for hair biology, highlighting the Hippo pathway's importance and suggesting links between hair disorders, cancer pathways, and the immune system.
3 citations,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
3 citations,
November 2022 in “International journal of environmental research and public health/International journal of environmental research and public health” Ethnic Indian women with PCOS often have early symptoms, delayed diagnosis, and need better information and support for treatment and lifestyle management.
1 citations,
May 2021 in “BMC Proceedings” The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.
March 2024 in “BMC cancer” High levels of ST14 and TMEFF1 proteins in ovarian cancer are linked to worse patient outcomes and may be a new treatment target.
September 2023 in “Animals” Genes linked to wool fineness in sheep have been identified.
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.
85 citations,
June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
57 citations,
November 2017 in “Nature Communications” Researchers found 71 genetic regions linked to male pattern baldness, which account for 38% of its genetic risk.
43 citations,
November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
14 citations,
November 2014 in “European journal of medicinal chemistry” Researchers found new potential treatments for conditions related to the androgen receptor, like male hormonal contraception, by testing thousands of compounds.
1 citations,
September 2020 in “Cochrane library (CD-ROM)” The analysis aims to identify the most effective and safest treatments for alopecia areata.