research Proteolysis‐targeting chimeras in cancer therapy: Targeted protein degradation for next‐generation treatment
PROTACs offer a new, precise way to treat cancer by breaking down harmful proteins.
Search
for
Sort by
Research
360-390 / 1000+ resultsresearch Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research The Case Files
Thyroid storm is hard to diagnose due to vague symptoms but needs urgent attention.
research Cutaneous Mucinosis in a Patient With Eosinophilia-Myalgia Syndrome Associated With L-Tryptophan Ingestion
A woman developed a persistent skin rash and hair loss from a condition linked to her increased L-tryptophan intake.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research PMON281 PERSISTENT VIRILIZATION AND VASOMOTOR SYMPTOMS IN A TRANSMAN 5-YEARS POST TESTOSTERONE WITHDRAWAL
A transman experienced lasting virilization symptoms after stopping testosterone, which were resolved with estradiol treatment.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Hair cosmetic ingredients from the symbiont bacteria Xylocarpus sp. fruit are based on antimicrobial and antifungal bacteria
Bacteria from Xylocarpus fruit can be used in hair creams to treat hair loss and fight infections.
research Antioxidant Activity and In Vitro Inhibition Property of Mitrocarpus hirtus Leaf Extracts Against Tinea capitis (Scalp Ringworm)
Mitrocarpus hirtus leaf extracts may help fight scalp ringworm.
research Folliculitis and scarring after eyebrow transplantation: an uncommon complication
Eyebrow transplants can rarely cause scarring due to folliculitis.
research Patent Reports
New patents include innovations in skin and hair care, disease treatment, plant stress tolerance, and protein purification.
research 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Multiple Pilomatrixoma in Turner Syndrome
Multiple pilomatrixoma may indicate Turner syndrome.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.