48 citations
,
June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
24 citations
,
January 2023 in “Cancer Research” AMPK activation may reduce melanoma risk in red-haired individuals.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
Mutations in the hairless protein gene cause hair loss.
60 citations
,
October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
449 citations
,
December 2005 in “The Plant Cell” BIK1 gene helps plants resist some pathogens but makes them more vulnerable to others.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
324 citations
,
May 2002 in “Oncogene”
6 citations
,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
10 citations
,
October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
October 2023 in “Journal of the Endocrine Society” A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
1 citations
,
February 2025 in “Journal of the Neurological Sciences” Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
September 2024 in “Genes” CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
September 2025 in “Arthritis Research & Therapy” BMS-470539 reduces skin fibrosis and inflammation.
43 citations
,
January 1999 in “Endocrinology” Cortisol increases a specific protein in bone cells, which may help explain its negative effects on bone.
September 2002 in “Oncology Times” Promising cancer treatments were found, but the manufacturer closed.
Men with early-onset hair loss are less responsive to bromocriptine's heart and metabolism benefits.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
2 citations
,
July 2023 in “International Journal of Molecular Sciences” BFNB could be a promising treatment for hair growth.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
1 citations
,
January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
January 2025 in “Cellular and Molecular Life Sciences” BMP4 helps stem cells turn into pigment-producing cells, affecting hair color and growth.
July 2023 in “New phytologist” The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
16 citations
,
February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.