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research Reimagining Hair Science: A New Approach to Classify Curly Hair Phenotypes via New Quantitative Geometrical & Structural Mechanical Parameters
This study used quantitative methods to identify new geometric and mechanical parameters of curly and kinky/coily hair, aiming to improve classification and develop better personal care products for these hair types.
research Novel 5α-reductase inhibitors unlinked to depression-like phenotypes in rat model of BPH
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
This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
research Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.
research Stromal Cells of the Human Postmenopausal Ovary Display a Distinctive Biochemical and Molecular Phenotype
This study observed that the size of vaginal prolapse in patients was significantly related to both the preoperative vaginal length and the length of vaginal excision during the Michigan four-wall sacrospinous suspension procedure.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
research Fibromodulin reduces scar formation in adult cutaneous wounds by eliciting a fetal-like phenotype
This study found that fibromodulin significantly reduces scar formation and boosts scar strength in rodent and porcine models, suggesting potential for FMOD-based therapies in cutaneous wound repair.
research Sulfated hyaluronan‐containing artificial extracellular matrices promote proliferation of keratinocytes and melanotic phenotype of melanocytes from the outer root sheath of hair follicles
This laboratory study found that collagen matrices with high-sulfated hyaluronan may enhance the cultivation of human keratinocytes and melanocytes from hair follicles for epidermal graft development.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
research MicroRNA Species in Follicular Fluid Associating With Polycystic Ovary Syndrome and Related Intermediary Phenotypes
This study found that miRNA expression profiles in follicular fluid are altered in women with PCOS, with certain miRNAs potentially useful for distinguishing patient subtypes and contributing to understanding PCOS heterogeneity.
research Conversion of C57Bl/6 mice from a tumor promotion-resistant to a -sensitive phenotype by enhanced ornithine decarboxylase expression
This study in a transgenic mouse model found that repressing overexpression of ornithine decarboxylase reduced papilloma development, indicating its role in tumor promotion sensitivity.
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 Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
research Variations in alanine aminotransferase levels within the normal range predict metabolic and androgenic phenotypes in women of reproductive age
This study found that normal ALT levels in women of reproductive age are linked with metabolic and androgenic abnormalities, suggesting ALT could be used beyond liver disease diagnoses.
research A Potential Role for IL-4 and IL-13 in an Alopecia Areata–Like Phenotype: A Clinical Perspective
This study suggests that IL-4 and IL-13 may play a role in the immunopathogenesis of alopecia areata in some patients, indicating a possible Th2-driven pathway in this condition.
research Rotterdam criteria–based diagnostic subtype is not a strong predictor of cutaneous phenotype in patients with polycystic ovary syndrome: A cross-sectional study
This article discusses the uncertainty regarding distinct skin findings and cardiometabolic profiles among PCOS subtypes and reports no new clinical data.
research CD4 T cells from mice with alopecia areata express an effector like phenotype and can transfer disease
In this animal study, researchers discovered that CD4 T cells from mice with alopecia areata can induce the disease more efficiently than those from unaffected mice, likely by supporting CD8 T cell activation and hair follicle attack.
research Proteomic Predictors of Baricitinib Response in Severe Alopecia Areata: CCL11 Flags a Refractory Phenotype
Results are not reported in this abstract, which notes that while Janus kinase inhibitors like baricitinib show therapeutic benefits for alopecia areata, the mechanisms and reliable predictors of response remain unclear.
research Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
This study found that scalp disorders, such as hair loss and itching, can be associated with collagen VI mutations, thus highlighting the need to investigate scalp involvement in these patients.
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
This study found that in patients with elevated fibrinogen levels undergoing revision rhinoplasty, PDRN decreased M1 cytokines and increased M2 cytokines, potentially offering a new therapeutic approach, but further research is needed to understand its mechanisms and effects fully.
research 559 Induction of tissue-specific premature stem cell aging promotes senescence-like phenotypes in remote multiple organs
This study found that dysregulation of the DNA damage response in stem cells is a common factor of aging, affecting tissues like the skin, brain, kidneys, and intestine.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
research Conversion of C57Bl/6 mice from a tumor promotion–resistant to a –sensitive phenotype by enhanced ornithine decarboxylase expression
This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
research Expanding the therapeutic potential of neuro(active)steroids: a promising strategy for hyperdopaminergic behavioral phenotypes
This review discusses the role of neuro(active)steroids, particularly those in the 5α reductase pathway, in modulating dopamine signaling and their impact on neuropsychiatric disorders characterized by dopamine imbalances, including addiction, schizophrenia, and Parkinson's Disease.
research The Functional Diversity of Epidermal Keratins Revealed by the Partial Rescue of the Keratin 14 Null Phenotype by Keratin 16
In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.