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.
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630-660 / 1000+ results 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 Non-hemorrhage-related adverse effects of rivaroxaban
Rivaroxaban can cause liver injury, allergic reactions, blood vessel inflammation, and hair loss, but these side effects are rare.
research Accessing Properties of Molecular Compounds Involved in Cellular Metabolic Processes with Electron Paramagnetic Resonance, Raman Spectroscopy, and Differential Scanning Calorimetry
These methods help understand cell structures and reactions.
research Emerging roles of Sox6 in the renal and cardiovascular system
Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.
research POS0080 TOFACITINIB TREATMENT IN CHILDREN WITH RHEUMATIC DISEASES: SINGLE-CENTER EXPERIENCE
Tofacitinib is a promising treatment for children with rheumatic diseases.
research 5α-reductase isoenzymes mediate stress-exacerbated Tourette-like responses in animal models
Targeting 5α-reductase type 1 may help manage Tourette-like symptoms.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research A phase 2a study investigating the effects of ritlecitinib on brainstem auditory evoked potentials and intraepidermal nerve fiber histology in adults with alopecia areata
Ritlecitinib is safe and may effectively treat alopecia areata.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Axitinib-induced repigmentation of grey hair in a patient with metastatic renal cell carcinoma
Axitinib treatment turned a man's grey hair back to black.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Ritlecitinib for Severe Alopecia Areata: A 24-Week, Multicentre, Real-World Study
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 Targeting noncanonical nuclear factor kappa B signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha
The study investigates NF-κB signalling in CYLD cutaneous syndrome (CCS) tumours to identify potential drug targets. Researchers used transcriptomics, proteomics, and single-cell RNA sequencing on patient-derived CCS tumour cells, revealing evidence of non-canonical NF-κB signalling with increased p100 to p52 processing and RelB protein expression. IκB kinase alpha (IKKα) was identified as a candidate target, and a novel IKKα inhibitor (SU1644) was tested on CCS tumour spheroid cultures, showing reduced tumour viability. The findings support the potential use of topical IKKα inhibitors as a preventive treatment for CCS.
research Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason)
Tigason improved hair growth in a boy with monilethrix without side effects.
research RAGE and Its Ligands in Melanoma
RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
research In vivo reflectance confocal microscopy: usefulness for diagnosing hair diseases
In vivo reflectance confocal microscopy is useful for evaluating hair shaft diseases but needs improvement for deeper hair follicle issues.
research WRKY transcription factors (TFs): Molecular switches to regulate drought, temperature, and salinity stresses in plants
WRKY transcription factors help plants manage stress and support growth.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research BRITISH ASSOCIATION OF DERMATOLOGY.
The meeting discussed various skin conditions, treatments, and unusual cases, highlighting the effectiveness of tetracycline in treating rosacea.
research Review of Promising Off-Label Use of Deucravacitinib
Deucravacitinib may help treat various immune diseases beyond psoriasis, but more research is needed.
research Improving selective androgen receptor modulator discovery and preclinical evaluation
We need better ways to test and understand SARMs to make safer and more effective treatments.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research Retinoids - new uses and new synthetic agents
New retinoids are effective for various skin conditions and are being developed to have fewer side effects.
research Data from Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin
Ribonucleotide excision repair is crucial to prevent skin cancer.
research Doxil (Caelyx): an exploratory study with pharmacokinetics in patients with hormone-refractory prostate cancer
Doxil showed some effectiveness against advanced prostate cancer but caused severe side effects at higher doses.
research Acute dermal and ocular irritation testing of rice bran supercritical CO2 extract (RB-SCE) and 0.5% RB-SCE essence product
Rice bran extract caused moderate skin irritation but no eye irritation, while a diluted essence was not irritating to skin and only slightly to guinea pigs.