research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
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300-330 / 1000+ resultsresearch MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
research 9-cis-Retinoic Acid Capsules in the Treatment of AIDS-Related Kaposi Sarcoma
9-cis-retinoic acid showed some effectiveness in treating AIDS-related Kaposi sarcoma but had significant side effects at higher doses.
research scRNA+TCR-seq Reveals the Proportion and Characteristics of Dual TCR Treg Cells in Mouse Lymphoid and Non-lymphoid Tissues
Dual TCR Treg cells are common in various mouse tissues and show diverse characteristics.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Mobile phone app from NHS "hack day" is set to transform handovers and task lists
FFA can be mistaken for rosacea, requiring specific treatment for accurate diagnosis and management.
research Koinfeksi Sifilis Sekunder, Condyloma Acuminata dan Human Immundeficiency Virus (HIV) pada Pria Homoseksual
A 22-year-old homosexual man was diagnosed with secondary syphilis, genital warts, and HIV, highlighting the high STI risk in men who have sex with men.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research CCN2 modulates hair follicle cycling in mice
The protein CCN2 controls hair growth by affecting hair follicle formation and stem cell activity in mice.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Sa1389: LESSONS FROM HEPATITIS C TREATMENT DURING THE COVID-19 PANDEMIC: DECREASED RESOURCE UTILIZATION LEADS TO SIMILAR EFFICACY IN BRITISH COLUMBIA, CANADA
Supplemental testosterone may lower liver cancer risk in hepatitis C patients.
research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia
Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
research Selection of adult hair follicle stem cells and the effects of #beta#--catenin
A method was found to select hair follicle stem cells, and beta-catenin helps them grow and change.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Functional analysis of collagen XVII in epithelial cancers and a mouse model
Collagen XVII is important for cell functions and its absence can worsen cancer outcomes.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research A rash diagnosis
The man's rash, hair loss, and vision issues were due to syphilis, not CMV.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice
FoxN1 overexpression in young mice harms immune cell and skin development.
research 218 Chemokine receptor CCR5 is the novel target for the treatment of alopecia areata
Blocking the CCR5 receptor may be a new way to treat hair loss from alopecia areata.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Keratin 79 identifies a novel population of migratory epithelial cells that initiates hair canal morphogenesis and regeneration
Keratin 79 marks a new group of cells that are key for creating and repairing the hair follicle's structure.
research Intermittent chronic telogen effluvium with an unusual dermoscopic finding
A 17-year-old girl has had repeated hair loss since childhood, which can be triggered by infections like COVID-19.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.