49 citations
,
May 1974 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” Transamidases are present in the epidermis but their exact role is unclear.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
43 citations
,
May 1999 in “Journal of Biological Chemistry” Agouti protein affects melanocortin receptors through competitive antagonism and receptor down-regulation.
6 citations
,
June 2016 in “The anatomical record” Dogs have varying numbers of touch-sensitive Merkel cells in different skin areas, with most in the oral mucosa and facial skin, unrelated to age, sex, breed, or color.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
January 2024 in “Wiadomości Lekarskie” New methods are being developed to improve drug delivery to the brain.
January 2015 in “International Journal of Nanomedicine” Anionic squarticles can effectively counteract amitriptyline overdose, improving survival rates.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
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.
March 2003 in “Rosa P: A digital library for transportation research (United States Department of Transportation)” The tool kit helps transit agencies ensure safety by managing employees' medication use.
23 citations
,
December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.
A specific gene change in APCDD1 increases the risk of hair loss.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
1 citations
,
February 2025 in “Journal of the Neurological Sciences” Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.
January 2007 in “Edward Elgar eBooks” TSPO might help treat anxiety and depression.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
1 citations
,
January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
258 citations
,
July 2005 in “Journal of lipid research” DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
36 citations
,
July 2017 in “Journal of controlled release” A new method allows for controlled, long-lasting delivery of retinoic acid through the skin with fewer side effects.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
February 2020 in “Oncology Times” Antibody drug conjugates show promise in targeting cancer cells while reducing harm to healthy cells.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
January 2026 in “Journal of Materials Chemistry B” TA-Ado effectively promotes hair growth and reduces hair loss.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
January 2024 in “Wiadomości Lekarskie” New markers can detect tumors, aid drug delivery, and treat cancer effectively and safely.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
1 citations
,
November 2024 in “Pharmaceutical Sciences” Deformable vesicular carriers improve drug delivery for skin conditions and systemic treatments.