35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
4 citations
,
June 2013 in “The Journal of Rheumatology” The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
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.
136 citations
,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
26 citations
,
May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” sPLA2-IIE is crucial for normal hair follicle structure and skin health.
21 citations
,
August 2024 in “Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology” Single-cell transcriptomics helps improve animal health and productivity by studying gene expression in individual cells.
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.
July 2013 in “Neurosurgery” Spinal fMRI can help understand brainstem and spinal cord function, especially in spinal cord injury patients.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
71 citations
,
October 2017 in “Journal of Investigative Dermatology” PPAR-γ agonists like pioglitazone may help manage lichen planopilaris but don't fully reverse scarring.
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.
35 citations
,
November 2021 in “Environmental Health” Environmental health research must address racism to improve health outcomes for BIPOC communities.
27 citations
,
February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
13 citations
,
April 2024 in “International Journal of Molecular Sciences” Loss of the Y chromosome in men is linked to health issues like heart disease and cancer.
8 citations
,
May 2025 in “Biomolecules” Forensic genetics can now predict physical traits and lifestyle habits, with future advancements expected from new technologies.
3 citations
,
April 2023 in “Veterinary sciences” Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
September 2023 in “Animals” Genes linked to wool fineness in sheep have been identified.
1 citations
,
November 2025 in “Science Advances” Two gene variants cause white spots in cattle.
A new method allows detailed tracking of cell regeneration in crustacean legs.
9 citations
,
February 2022 in “Biomolecules” Drinking a lot of alcohol increases the risk of prostate cancer and can worsen the condition.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
1 citations
,
November 2014 in “British journal of medicine and medical research” PCOS and related metabolic issues often run in families.
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.
20 citations
,
September 2021 in “Nature communications” Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.