research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
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360-390 / 1000+ results research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Alert to US physicians: DHEA, widely used as an OTC androgen supplement, may exacerbate COVID-19
The over-the-counter supplement DHEA could make COVID-19 worse, especially in diabetics and people with G6PD deficiency.
research Comparative GC-MS Based In vitro Assays of 5α-Reductase Activity Using Rat Liver S9 Fraction
The S9 fraction with GC-IDMS is effective for measuring 5α-reductase activity.
research Celiac Disease: Beyond Diet and Food Awareness
Celiac disease requires more than just a gluten-free diet for effective management.
research Evaluation of glucuronide metabolite stability in dried blood spots
Dried blood spots can be as stable as frozen liquid samples for storing certain metabolites.
research FRI-02 FROM GIRLS TO BOYS TO OLDER MEN, THE INTERESTING TALE OF THE GUEVEDOCES AND 5-ALPHA REDUCTASE INHIBITORS
The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Solubilization and Solid‐State Characterization of a Poorly Soluble 5‐α Reductase Inhibitor
GI197111X is best dissolved in Capmul MCM for trials.
research UTMD Enhances Targeting of Diclofenac and Doxil® to Boost Tumor Immunotherapy
UTMD with diclofenac and Doxil® improves cancer treatment by boosting immune response and reducing tumor-supporting cells.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research 915 Dietary grape powder inhibits atopic dermatitis-like skin lesions in NC/Nga mice
Eating grape powder may reduce the severity of skin allergy symptoms.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Helminth TGF-β mimic, TGM, increases leukocyte migration and activation while also enhancing cutaneous wound healing and tissue regeneration.
A parasite molecule can speed up skin healing and reduce scarring.
research 724 MPZL3 functions as a negative regulator of sebaceous gland size and sebocyte proliferation
MPZL3 protein helps keep sebaceous gland size and cell growth in check.
research Evaluating Participation in Gender-Affirming Care: Cross-Sectional Analysis of Dermatology Program Websites in the United States
Few dermatology programs mention gender-affirming care, highlighting a need for better training and visibility.
research Biomimetic biphasic microsphere preparation based on the thermodynamic incompatibility of glycosaminoglycan with gelatin methacrylate for hair regeneration
The study created a new type of microsphere that effectively regrows hair.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Ligand‐independent epidermal growth factor receptor hyperactivation increases sebaceous gland size and sebum secretion in mice
EGFR hyperactivation increases sebaceous gland size and sebum production in mice.
research Author response: Smad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration
SMAD4 is crucial for muscle repair in young adults but not in aged mice.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.