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research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research 44391 ICI Therapy Toxicities in Psoriasis
ICI therapy increases the risk of gastrointestinal and endocrine issues in psoriasis patients.
research Complex Regional Pain Syndrome I (Reflex Sympathetic Dystrophy)
CRPS type I is a complex pain condition with no proven cure, requiring personalized treatment.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research The Prevalence of Polycystic Ovarian Syndrome in 14-18 year old girls of Zanjan High Schools, 2008
Many high school girls in Zanjan have polycystic ovarian syndrome.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Visualization of individual cell division history in complex tissues
The tool iCOUNT helps understand how stem cells divide and affect tissue development and repair.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research THE CAUCASUS ECONOMIC AND SOCIAL ANALYSIS JOURNAL OF SOUTHERN CAUCASUS
research Ion Sequential Therapy Aligned With Pathological Changes Enhances Cardiac Function After Myocardial Infarction
Ion sequential therapy improves heart function after a heart attack.
research ISHRS Reaches Historic Milestone: 1 Million Annual Visitors to ISHRS.org as Global Authority Grows
research Prevalence of Polycystic Ovary Syndrome in Girls Aged 14–18 Years in Isfahan, Iran
About 3% of high school girls aged 14-18 in Isfahan, Iran, have polycystic ovary syndrome.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Atualização em Coriorretinopatia Serosa Central
CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research 11β-Hydroxysteroid dehydrogenase type 1 inhibitors for the treatment of type 2 diabetes
Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Innovative Device for Indocianyne Green Navigational Surgery
The new device improves surgical accuracy by using a special dye and camera to see inside tissues.
research ISSUES OF IMPLEMENTATION OF SYSTEM OF CONTROL IN SUSTAINABLE FINANCIAL AND ECONOMIC MANAGEMENT OF INDUSTRIAL ENTERPRISES
Effective control systems are important for the financial and economic management of industrial companies.
research Fellow of the ISHRS (FISHRS)
research Obesity resistance of the stearoyl-CoA desaturase-deficient (scd1 -/-) mouse results from disruption of the epidermal lipid barrier and adaptive thermoregulation
Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
research OCORRÊNCIA DE CISTOISOSPOROSE EM CÃES E SUA IMPORTÂNCIA PARA A SAÚDE COLETIVA
Cystoisosporosis in dogs is important for public health.
research Synergistic Effect of Co-Delivering Ciprofloxacin and Tetracycline Hydrochloride for Promoted Wound Healing by Utilizing Coaxial PCL/Gelatin Nanofiber Membrane
The nanofiber membranes effectively promote wound healing and have strong antibacterial properties.
research Discipline-based staff development courses to promote a sustainable SOTL environment : An example from science and engineering at Uppsala University
Breast cancer patients need better psychological support to improve their quality of life.
research An In Situ Chemotherapy Drug Combined with Immune Checkpoint Inhibitor for Chemoimmunotherapy
Combining specific nanoparticles with immune therapy significantly improves cancer treatment.