research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
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research Eosinophilia versus atopy as a predictor of severe phenotypes in alopecia areata
Both atopy and eosinophilia are linked to more severe hair loss in people with alopecia areata.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research MicroRNA Species in Follicular Fluid Associating With Polycystic Ovary Syndrome and Related Intermediary Phenotypes
Certain microRNAs in the fluid around eggs are linked to Polycystic Ovary Syndrome and may help diagnose it.
research A Comparison of the Hormonal Profile of Early Androgenetic Alopecia in Men With the Phenotypic Equivalent of Polycystic Ovarian Syndrome in Women
Men with early hair loss have similar hormone levels to women with PCOS, possibly increasing risk of obesity and heart issues.
research Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Expression of MK6a dominant-negative and C-terminal mutant transgenes in mice has distinct phenotypic consequences in the epidermis and hair follicle
Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research Rotterdam criteria–based diagnostic subtype is not a strong predictor of cutaneous phenotype in patients with polycystic ovary syndrome: A cross-sectional study
The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
research An Indian Evidence-Based Study of Prevalence, Phenotypic Features, Lifestyle Modifications of Polycystic Ovarian Syndrome Patients
The study found that PCOS affects about 6.5-6.8% of women in both urban and rural areas of Telangana, India, and highlighted the importance of lifestyle changes for management.
research From Misdiagnosis to Targeted Therapy: A Case Report of Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum
Accurate diagnosis is crucial for effective treatment of similar hair loss conditions.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Conversion of C57Bl/6 mice from a tumor promotion–resistant to a –sensitive phenotype by enhanced ornithine decarboxylase expression
Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
research Fibromodulin reduces scar formation in adult cutaneous wounds by eliciting a fetal-like phenotype
Fibromodulin treatment helps reduce scarring and improves wound healing by making it more like fetal healing.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Expanding the therapeutic potential of neuro(active)steroids: a promising strategy for hyperdopaminergic behavioral phenotypes
Neurosteroids may help treat disorders with too much dopamine activity.
research Sulfated hyaluronan‐containing artificial extracellular matrices promote proliferation of keratinocytes and melanotic phenotype of melanocytes from the outer root sheath of hair follicles
Sulfated hyaluronan in collagen helps hair follicle cells grow and develop better for skin grafts.
research Variations in alanine aminotransferase levels within the normal range predict metabolic and androgenic phenotypes in women of reproductive age
Normal-range ALT levels can indicate metabolic and hormonal imbalances in young women.
research A Potential Role for IL-4 and IL-13 in an Alopecia Areata–Like Phenotype: A Clinical Perspective
IL-4 and IL-13 might play a role in a type of hair loss similar to alopecia areata.
research Adaptive 3D Self‐Assembly of Colorectal Cancer Cells With Unchanged Tumor Phenotype and Drug Sensitivity
Colorectal cancer cells can adapt without losing their traits or drug sensitivity.
research CD4 T cells from mice with alopecia areata express an effector like phenotype and can transfer disease
CD4 T cells can cause alopecia areata by activating CD8 T cells to attack hair follicles.
research Proteomic Predictors of Baricitinib Response in Severe Alopecia Areata: CCL11 Flags a Refractory Phenotype
High CCL11 levels may indicate poor response to baricitinib in severe alopecia areata.
research ANALYSIS OF THE BACKGROUND LEVEL OF CYTOKINES M1 AND M2 OF THE MACROPHAGE PHENOTYPE IN PATIENTS WITH REVISION RHINOPLASTY AFTER THE USE OF THE DRUG PDRN
PDRN may reduce inflammation and complications in revision rhinoplasty for patients with high fibrinogen levels.
research Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
People with Collagen VI-related myopathies may often have hair loss and scalp issues.
research 559 Induction of tissue-specific premature stem cell aging promotes senescence-like phenotypes in remote multiple organs
Aging in one type of stem cell can cause aging-like changes in various organs.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.