research Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
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510-540 / 1000+ resultsresearch 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 NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research QuantAnts machines discover biomarkers for RAS signaling activation and design sgRNAs for CRISPR to target complex CD9, CD34, and CD74.
The QuantAnts machines can find cancer markers and create CRISPR targets for them.
research Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle
Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
research Rand Protease: The Role of Calcium-Binding Site on Stability with Mutagenesis and The Effectiveness on Leather Dehairing
The enzyme Rand protease works well for leather dehairing and its stability is important, with Leu75 playing a key role.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research rPanglaoDB: an R package to download and merge labeled single-cell RNA-seq data from the PanglaoDB database
rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
research Correlation Between In Vivo Reflectance Confocal Microscopy and Horizontal Histopathology in Skin Cancer: A Review
Reflectance confocal microscopy reliably identifies skin cancer features like horizontal skin tissue sections.
research Resolution of Waldenström's macroglubulinemia related isolated neutropenia by immunochemotherapy
Immunochemotherapy successfully treated neutropenia in a patient with Waldenström's macroglobulinemia.
research 554 Repurposing a clinical antimalarial for the therapeutic induction of lethal ER stress targeting BRAF-kinase inhibitor-resistant malignant melanoma
Mefloquine, an antimalarial drug, is effective in killing melanoma cells resistant to other treatments by causing lethal stress in the cells.
research Translating Resveratrol Research: A Systematic Review on Patents and Clinical Trials (2000–2025)
Resveratrol shows health benefits but faces challenges in effectiveness and regulation.
research A pilot study for triple combination therapy with a low-fluence 1064 nm Q-switched Nd:YAG laser, hydroquinone cream and oral tranexamic acid for recalcitrant Riehl’s Melanosis
The combination therapy significantly improved Riehl’s melanosis in patients without serious side effects.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Hair Replacement in Miami .496
research NAC transcription factor RD26 is a regulator of root hair morphogenic plasticity
RD26 controls root hair growth during drought by repressing key genes, helping plants save energy.
research 안드로겐 탈모증 환자에서 HDMHG0401-10의 탈모방지, 양모 효과 및 안전성 평가를 위한 임상시험
research 409 ANDROGEN RECEPTOR GENE POLYMORPHISM (SNP RS6152) – ITS RELATIONSHIP TO ANDROGEN-SENSITIVE GENES EXPRESSION IN BENIGN PROSTATIC HYPERPLASIA, CARCINOMA OF THE PROSTATE AND ANDROGENETIC ALOPECIA
Gene variation affects prostate issues and hair loss.
research High Response Rate to Bexxar in Advanced Stage Prior Treatment-Resistant Follicular Lymphoma
Bexxar treatment led to a high response rate in patients with advanced-stage, treatment-resistant follicular lymphoma.
research Ritlecitinib for Severe Alopecia Areata: A 24-Week, Multicentre, Real-World Study
Ritlecitinib effectively regrows hair in severe alopecia areata, especially in adolescents.
research In vivo reflectance confocal microscopic findings in a case of trichofolliculoma
Reflectance confocal microscopy may help diagnose trichofolliculoma by showing specific skin features.
research BC01 (P99): A split‐scalp study to compare the effects of platelet‐rich plasma prepared and activated by two different methods in androgenetic alopecia
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
research 1421 Primary cutaneous diffuse large B-cell lymphoma–leg type masquerading as a mucocele
An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
research The Influence of the MDR1 C3435T Polymorphism on Methotrexate Responsiveness in Rheumatoid Arthritis Patients
The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
research Chapter 17. Selective androgen receptor modulators (SARMs)
Selective Androgen Receptor Modulators (SARMs) are drugs that can control the effects of androgens in different tissues, potentially having fewer side effects and promising for treating various conditions.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.