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.
11 citations
,
June 2015 in “Scientific Reports” The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.
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.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
13 citations
,
January 2013 in “Applied and Environmental Microbiology” A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
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.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
5 citations
,
January 2016 in “Genetics and molecular research” Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
July 2024 in “Journal of Investigative Dermatology” Recombinant human TSG-6 speeds up wound healing in diabetic mice.
November 2025 in “Molecular and Cellular Biomedical Sciences” There is no significant link between the MMP-1 rs1799750 polymorphism and androgenetic alopecia in the Indonesian population.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
April 2017 in “Journal of Investigative Dermatology” HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
7 citations
,
June 2015 in “EMBO Reports” Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
December 2022 in “Research Square (Research Square)” The QuantAnts machines can find cancer markers and create CRISPR targets for them.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
17 citations
,
January 2019 in “International journal of biological sciences” Researchers used CRISPR/Cas9 to create a goat with a gene that increased cashmere production by 74.5% without affecting quality.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.