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.
Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
11 citations
,
July 2015 in “Journal of Anatomy” SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
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.
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
49 citations
,
January 2010 in “Plant and Cell Physiology” LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
60 citations
,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
7 citations
,
January 2023 in “Frontiers in cell and developmental biology” Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
36 citations
,
January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
1 citations
,
November 2008 in “Acta crystallographica” Scientists successfully created and analyzed the structure of a part of the human androgen receptor with specific modulators and a peptide to understand how it binds differently in various tissues.
April 2016 in “Journal of Investigative Dermatology” Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
12 citations
,
December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
January 2026 in “Therapeutics” SCUBE3 is a potential target for cancer and alopecia treatment but is challenging to target due to its varied roles.
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.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
4 citations
,
December 2023 in “Medicine” Lower levels of MYLK and CALD1 in bladder cancer and osteosarcoma are linked to worse survival rates.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
July 2025 in “New Phytologist” MLO proteins help regulate calcium and ROS levels, promoting root hair growth in Arabidopsis.
5 citations
,
September 2016 in “Security science and technology” DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
2 citations
,
March 2023 in “Research Square (Research Square)” Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
March 2026 in “Egyptian Journal of Forensic Sciences” Unified regulations and ethical guidelines are needed for fair use of forensic DNA phenotyping.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
April 2025 in “Journal of the Association for Research in Otolaryngology” NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
13 citations
,
September 2019 in “EBioMedicine” sPLA2-IIA increases growth in hair follicle stem cells and cancer cells, suggesting it could be targeted for hair growth and cancer treatment.
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.