research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
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research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research 328 The transcription factor CEBPB is a novel hub gene and multi-functional disease driver in Psoriatic skin inflammation
ILC1-like cells can cause alopecia areata by themselves.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research A case of red lunulae after haematopoietic stem cell transplantation
Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
research Two Opposing Faces of Retinoic Acid: Induction of Stemness or Induction of Differentiation Depending on Cell-Type
Retinoic acid can either maintain stem cells or make them specialize, depending on the cell type.
research Two cases of alopecia areata treated with ruxolitinib: a discussion of ideal dosing and laboratory monitoring
Ruxolitinib effectively and safely regrows hair in alopecia patients.
research SOX9 as a key regulator of tissue remodelling and epithelial cell fate transitions.
research Repurposing of H1-receptor antagonists (levo)cetirizine, (des)loratadine, and fexofenadine as a case study for systematic analysis of trials on clinicaltrials.gov using semi-automated processes with custom-coded software
Custom software found that common allergy drugs might have new uses for various conditions and could improve survival in some cancers.
research Does the corticotropin-releasing hormone system play a role in the pathogenesis of lichen planus?
The CRH/CRH-R1 system might be involved in causing lichen planus.
research 723 - Efficacy of ritlecitinib in patients with alopecia areata by extent of hair loss at baseline: post hoc analysis of the phase 3 long-term ALLEGRO-LT study
Ritlecitinib effectively promotes hair regrowth in alopecia areata patients, even with extensive hair loss.
research Multiomics Analysis of the Response to Ritlecitinib in Alopecia Areata Subtypes and Correlation With Efficacy
Ritlecitinib helps reduce inflammation and promote hair regrowth in alopecia areata, especially in patchy-type cases.
research Derivation and Validation of Systemic Lupus International Collaborating Clinics Classification Criteria for Systemic Lupus Erythematosus
The updated criteria improve the accuracy of diagnosing lupus.
research A Phase 1, Open‐Label Study of the Pharmacokinetics of Ritlecitinib in Children Aged 6–12 Years With Alopecia Areata
Ritlecitinib was generally well tolerated in children with alopecia areata.
research K6/ODC transgenic mice as a sensitive model for carcinogen identification
K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function
Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
research Alopecia areata and ritlecitinib: Unravelling response trajectories
Ritlecitinib is effective for long-term hair regrowth in alopecia areata, especially in females and early treatment.
research Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation
Activated LEF/TCF complexes are crucial for hair development and cycling.
research Folliculotropic Mycosis Fungoides with Skewed T-cell Receptor CDR3 Motif: Suggestive of Lipid-antigen Selection?
Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
research Piecing together the pigment-type switching puzzle
The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research P‐30 Use of fipronil for treatment of Lynxacarus radovskyi in outdoor cats in Rio de Janeiro (Brazil)
Fipronil effectively treats Lynxacarus radovskyi in outdoor cats.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research Class III Peroxidases PRX01, PRX44, and PRX73 Control Root Hair Growth in Arabidopsis thaliana
PRX01, PRX44, and PRX73 are essential for root hair growth in Arabidopsis thaliana.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research THE INSUSCEPTIBILITY OF C57 BLACK MICE TO POST-IRRADIATION LEUKEMIA, SOME UNREPORTED POST-IRRADIATION CHANGES
CXCL7 is essential for muscle repair by aiding early neutrophil infiltration.
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.