research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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research Baseline Neutrophil-to-Lymphocyte Ratio Stratifies Early Trichoscopic Response to Platelet-Rich Plasma–Based Regimens in Non-Scarring Alopecia: A Real-World Cohort with Internal Validation Using an Interpretable Neural Network
A high neutrophil-to-lymphocyte ratio may predict poor response to hair loss treatment.
research Phase separation: a new window in RALF signaling
LLPS is crucial for RALF signaling, aiding plant growth and stress resilience.
research Rosacea and Chronic Rhinosinusitis: A Case-Controlled Study
The study suggests that people with rosacea are more likely to have chronic rhinosinusitis.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research Differential expression of retinoic acid-synthesizing (RALDH) enzymes during fetal development and organ differentiation in the mouse
Different enzymes are active in different parts of developing mouse organs.
research Pre-receptor regulation of the androgen receptor
Two enzymes regulate androgen receptor activity, affecting treatments for androgen insufficiency and benign prostatic hyperplasia.
research 343 Associations of resilience with quality of life in patients with hidradenitis suppurativa
People with hidradenitis suppurativa who are more resilient tend to have better quality of life and less anxiety and depression.
research A COMPARISON OF THE TOXICITIES OF 4-(ETHOXYCARBOPHENYL) RETINAMIDE AND SOME OTHER RETINOIDS
4-(Ethoxycarbophenyl) retinamide is much less toxic than other retinoids.
research A Novel Nomogram for Predicting Gonadotropin-Releasing Hormone Analogue Treatment Outcome in Girls with Idiopathic Central Precocious Puberty
A new model helps predict treatment success in girls with early puberty.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Bibliometric and visualized analysis of nonpharmaceutical TCM therapies for rheumatoid arthritis over the last 20 years using VOSviewer and CiteSpace software
Nonpharmaceutical Traditional Chinese Medicine therapies for rheumatoid arthritis have been increasingly researched over the past 20 years.
research The Rotterdam Study: 2010 objectives and design update
The Rotterdam Study aims to understand various diseases in older adults.
research Author response: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
research 5048 A Rare Cause of Hyperandrogenism in Postmenopausal Women: Ovarian Stromal Hyperplasia
Ovarian stromal hyperplasia can cause high testosterone in postmenopausal women and is treated by removing the ovaries.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women
The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
research Adaptive minirhizotron for pepper roots observation and its installation based on root system architecture traits
The new microrhizotron tool effectively observes and measures pepper plant roots non-destructively.
research Massive squamous cell carcinoma arising from hidradenitis suppurativa with marked hypercalcemia and neutrophilia
A woman with a long-term skin condition developed a serious skin cancer that led to her death.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research The Rotterdam Study: objectives and design update
The Rotterdam Study investigates diseases in older adults and has produced many research findings.
research Ratio of ovarian stroma and total ovarian area by ultrasound in prediction of hyperandrogenemia in reproductive-aged Thai women with polycystic ovary syndrome: A diagnostic test
Ultrasound measurement of the ovarian stroma to total area ratio is not a reliable single predictor of high male hormone levels in Thai women with PCOS, but works better when combined with clinical signs.
research Applying Machine Learning Technique on Registry Data to Assess Factors Associated With In-Hospital Mortality Among STEMI Patients With Hypertension
Age, diabetes, and cardiogenic shock at PCI are key factors linked to in-hospital death in STEMI patients with hypertension.
research First‐degree relatives of patients with systemic lupus erythematosus: Autoreactivity but not autoimmunity?
Relatives of lupus patients show signs of immune system activity but not full-blown lupus.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Cognitive testing of a survey instrument for self-assessed menstrual cycle characteristics and androgen excess
The survey helps identify menstrual irregularities and excess male hormones, aiming to detect conditions like Polycystic Ovary Syndrome.
research PD02-05 SRD5A2 EXPRESSION IS A PREDICTOR OF RESPONSE TO FINASTERIDE IN THE MTOPS TRIAL
Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.