60 citations,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
17 citations,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
8 citations,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
January 2018 in “General internal medicine and clinical innovations” Busulfan/cyclophosphamide and total bone irradiation are equally effective for AML transplants.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
108 citations,
February 2008 in “The Journal of urology/The journal of urology” Inhibiting 5α-reductase can help reduce prostate cancer risk and improve treatment.
65 citations,
February 2015 in “Neuro-Oncology” Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
60 citations,
July 2020 in “ACS Nano” Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
25 citations,
June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
4 citations,
December 2019 in “Minerva Urology and Nephrology” 5-alpha reductase inhibitors may reduce bladder cancer recurrence and improve survival.
2 citations,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
May 2023 in “Journal of complementary medicine & alternative healthcare” Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
November 2022 in “CARDIOMETRY” A group has developed therapies that show promise for treating cancer and various other conditions.
45 citations,
November 2021 in “Fertility and Sterility” The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
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.
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.
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.
5 citations,
November 2022 in “Animal Genetics” Genomic research can help improve the quality and production of natural fibers in animals.
January 2024 in “Biology of sex differences” Dihydrotestosterone makes arteries stiffer in female mice by reducing estrogen receptor expression.
September 2023 in “Current opinion in microbiology” Certain fungi protect skin health, but changes can allow harmful fungi to cause serious infections, needing more research for treatment and control.
June 2022 in “Authorea (Authorea)” Efficient delivery systems are needed for the clinical use of CRISPR-Cas9 gene editing.
182 citations,
November 2017 in “Molecular Aspects of Medicine” The PDGF/PDGFR pathway is a potential drug target with mixed success in treating various diseases, including some cancers and fibrosis.
71 citations,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
15 citations,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
3 citations,
October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
26 citations,
October 2014 in “Andrologia” Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
10 citations,
November 2021 in “International journal of molecular sciences” Sheep and goat hair fibers are complex due to keratin-associated proteins, which are important for fiber properties and growth.