research Investigation of Some Amino Acid Analogues and Metabolites as Inhibitors of Wool and Hair Growth
Certain amino acid analogues can inhibit wool and hair growth and affect fiber strength.
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480-510 / 1000+ results research High‐dose mizoribine treatment for adolescents with systemic lupus erythematosus
High-dose mizoribine effectively controls symptoms in adolescents with lupus while reducing steroid use, with manageable side effects.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Alopecia difusa e atrofia da tireoide associadas à deficiência de selênio e zinco em ovinos.
Selenium and zinc deficiency in sheep leads to thyroid and skin problems.
research LB793 A phase 1, open-Label, single ascending dose study in healthy subjects of the safety, tolerability and pharmacokinetics of ASLAN004, a novel IgG anti-IL-13 receptor alpha 1 Inhibitor
ASLAN004 was safe and well-tolerated, supporting further development for treating certain diseases.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Recalcitrant alopecia areata responsive to leflunomide and anthralin—Potentially undiscovered JAK /STAT inhibitors?
Leflunomide and anthralin may effectively treat severe alopecia areata.
research IMPORTANCE OF ISOLATED GESTATIONAL HYPOTHYROXINEMIA IN THE DEVELOPMENT OF OBSTETRIC AND SOMATIC PATHOLOGIES.
Pregnant women with isolated hypothyroxinemia face more health issues, so iodine and folic acid supplements are important before and during early pregnancy.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab
Dupilumab improves eczema in Netherton Syndrome but not ichthyosis linearis circumflexa.
research Keratosis Pilaris-like Eruption during Treatment of Chronic Myeloid Leukemia with Tyrosine Kinase Inhibitors: Literature Review and Report of a Case Related to Imatinib
Some leukemia treatments can cause skin reactions similar to keratosis pilaris.
research Zinc‐responsive dermatosis in goats suggestive of hereditary malabsorption: two field cases
Goats may need lifelong zinc supplements due to hereditary zinc absorption issues.
research Scattered Skin Eruptions in a Patient With Inflammatory Bowel Disease
A woman with inflammatory bowel disease improved after treatment with ustekinumab for a rare skin condition associated with her disease.
research BULLOUS LUPUS, AN UNCOMMON CAUSE OF ATYPICAL ESOPHAGITIS: A CASE REPORT
Bullous lupus can cause severe esophageal issues but responds well to corticosteroids and azathioprine.
research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice
Biotin should be added to Japanese amino acid formula to prevent deficiency.
research Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research The relationship between deficiency of some trace elements, oxidative stress, immunoglobulin E and vitamin A in sheep affected with skin diseases
Sheep with skin diseases often have lower levels of certain trace elements and vitamin A, and higher oxidative stress and immunoglobulin E levels.
research Multisystemic eosinophilic epitheliotropic disease in a horse
The horse had a rare disease causing weight loss and skin issues, leading to euthanasia due to poor treatment options.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Clearance of ichthyosis linearis circumflexa with balneophototherapy
Balneophototherapy effectively treats ichthyosis linearis circumflexa but may need ongoing treatment due to short remission.
research An essential role for Rxrα in the development of Th2 responses
RXRα is crucial for proper immune response and links diet to immune function.
research The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
Ruxolitinib may effectively treat APS-1 by reducing harmful immune responses.