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research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Interaction of spironolactone with rat skin androgen receptor
Spironolactone reduces the number of androgen receptor sites in rat skin by blocking them with its metabolite.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research INNOVATIVE APPROACH TO CRC PREVENTION: THE ROLE OF LOW-PENETRATION GENES
Low-penetration genes might help personalize colorectal cancer prevention.
research 0475 High-dose UVA-1 therapy improves patient-reported outcomes and clinical scores in patients with sclerosing skin disease
High-dose UVA-1 therapy improves symptoms and skin condition in sclerosing skin disease.
research Extensive Challenges and Pending Advances in the Study of 5-Alpha-Reductase Isoenzymes. A Literature Review
5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
research Regional Societies Profiles: Japan Society of Clinical Hair Restoration (JSCHR)
The Japan Society of Clinical Hair Restoration (JSCHR) focuses on improving hair restoration techniques in Japan.
research Investigation of parental socioeconomic status as a determinant of dietary habits and disease severity of sickle cell disease children
Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
research Cutaneous calcinosis of scleroderma. Successful treatment with intralesional adrenal steroids.
Intralesional steroid injections can effectively treat calcinosis and ulcers in scleroderma.
research Measures of Adult Systemic Lupus Erythematosus: Disease Activity and Damage
Choosing the right tools is crucial for accurately measuring lupus activity and damage.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research High resolution full scan liquid chromatography mass spectrometry comprehensive screening in sports antidoping urine analysis
The method effectively detects banned substances in urine for sports antidoping.
research 2-Substituted 4-(Thio)chromenone 6-O-Sulfamates: Potent Inhibitors of Human Steroid Sulfatase
New compounds were made that block an enzyme linked to breast cancer better than existing treatments.
research Possible role of autophagy activation in stimulation of regeneration
The document suggests that activating autophagy might help with regeneration by removing old and damaged cells.
research Supplementary Material for: Autologous Cell Therapy for Aged Human Skin: A Randomized, Placebo-Controlled, Phase-I Study
RCS-01 cell therapy is safe and improves skin gene expression.
research Radiesse
Radiesse is a versatile facial injectable used for cosmetic improvements and long-term collagen production, with careful dosing needed to prevent complications.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research SP0158 Assessment and management of SLE in a nurse led clinic
Specialist nurses play a crucial role in managing lupus and empowering patients.
research SRD5A2 and emerging therapies in androgen-driven disorders
research Clinical analysis of rash in systemic lupus erythematosus
Rash in SLE patients indicates more severe disease.
research Systemic lupus erythematosus (SLE) in the eastern region of Saudi Arabia. A comparative study
SLE patients in eastern Saudi Arabia have a generally good prognosis despite multi-organ involvement.
research Characterization of spironolactone and metabolites derivatized using Girard's reagent P using mass spectrometry and ion mobility spectrometry
Girard's reagent P improves detection of spironolactone and its metabolites.
research SLE classification criteria item relationships: implications on SLE as a disease entity
SLE is likely one disease with various symptoms, not multiple distinct diseases.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Characteristics of pregnancy with Systemic Lupus Erythematosus (SLE) in Dr. Mohammad Hoesin Hospital, Palembang
Most pregnancies with SLE resulted in intrauterine growth restriction (IUGR).
research Platelet-Rich Plasma: New Performance Understandings and Therapeutic Considerations in 2020
PRP shows promise in treating joint and spine issues, but translating lab results to humans is challenging.