3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
16 citations
,
March 1986 in “Biochemical Pharmacology”
12 citations
,
November 2014 in “Bioscience, Biotechnology, and Biochemistry” Genetically modifying a bacteria and changing its growth conditions significantly increased the production of a chemical called dipicolinic acid.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
5 citations
,
March 2019 in “Journal of lipid research” New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
21 citations
,
November 2017 in “Livestock science” Nellore cattle have genetic variations linked to their adaptation to tropical environments.
September 2025 in “Bioengineering” The framework helps predict adverse effects of blood thinners, improving drug selection for atrial fibrillation.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
38 citations
,
November 2005 in “Epilepsia” Levetiracetam is widely used and generally well-tolerated for treating idiopathic generalized epilepsies, with tiredness as the main side effect.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
47 citations
,
September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
84 citations
,
December 2018 in “Genetics in Medicine” Pegvaliase is recommended for treating adults with phenylketonuria.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
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.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The N-K GM Series offers a free, effective solution to eliminate aflatoxin and cancer, improving health and life expectancy.
51 citations
,
December 2006 in “Mammalian Genome”
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The N-K GM Series offers a new method to reduce aflatoxin poisoning and cancer, improving health and saving costs in affected regions.
December 2023 in “Research Square (Research Square)” These specific gene polymorphisms are not linked to Alopecia Areata in Egyptians.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
August 2018 in “Online journal of neurology and brain disorders” Sodium valproate is effective in treating epilepsy, especially in patients who don't respond to other medications.
The treatment was not recommended due to limited effectiveness and significant side effects.
2 citations
,
September 2022 in “Advances in Environmental Biology” Avicennia marina leaf extract can fight Vancomycin-resistant bacteria.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
January 2021 in “Asian Journal of Pharmaceutical and Clinical Research” FT-Raman spectroscopy is effective for identifying drug polymorphs, ensuring quality and stability.