13 citations
,
November 2017 in “Journal of Cellular and Molecular Medicine” The workshop discussed the role of a protein called calreticulin in health and disease, its potential as a treatment target, and its possible use as a disease marker.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
October 2021 in “Dermatology reports” The care model improved timely diagnosis and treatment for psoriasis and psoriatic arthritis.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
6 citations
,
June 1986 in “The Journal of Dermatology” Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
23 citations
,
October 2015 in “Plastic and reconstructive surgery/PSEF CD journals” Radiesse is a versatile facial injectable used for cosmetic improvements and long-term collagen production, with careful dosing needed to prevent complications.
2 citations
,
January 2009 The procedure reliably measures cortisol in rhesus macaque hair.
16 citations
,
April 2006 in “Pediatrics International” High-dose mizoribine effectively controls symptoms in adolescents with lupus while reducing steroid use, with manageable side effects.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
January 2019 in “Advances in stem cells and their niches” Krox20 is important for cell differentiation in the brain and hair follicles.
August 2016 in “PolyPublie (École Polytechnique de Montréal)” Doxorubicin causes heart damage, so early detection and monitoring are important during chemotherapy.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.
13 citations
,
January 1999 in “Postgraduate Medicine” New drugs for rheumatoid arthritis show improvement but have side effects and are not a cure.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
20 citations
,
June 2024 in “Journal of Autoimmunity” Inflammation in rheumatoid arthritis increases steroid activation in cells, reducing inflammation.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
5 citations
,
August 2021 in “Journal of biological chemistry/The Journal of biological chemistry” Retinoic acid affects male and female muscle energy use and function differently.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
135 citations
,
May 2002 in “Anesthesiology” CRPS type I is a complex pain condition with no proven cure, requiring personalized treatment.
13 citations
,
January 2020 in “Acta Dermato Venereologica” Ruxolitinib treatment led to unexpected hair regrowth in a patient with alopecia universalis.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
23 citations
,
August 2017 in “Genome” Gene expression affects fur development in rex rabbits.
6 citations
,
September 2019 in “Skin pharmacology and physiology” RCS-01 therapy is safe and may improve skin structure by affecting gene expression.
December 2023 in “International Journal of Dermatology”
April 2024 in “The Journal of urology/The journal of urology” SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.