research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
Search
for
Sort by
Research
360-390 / 1000+ results
research Blood MUC-18/MCAM expression in patients with melanoma: a suitable marker of poor outcome
High MUC-18/MCAM levels in blood indicate a worse outlook for melanoma patients.
research Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV)
EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
research “Anisotrichosis”: A novel term to describe pattern alopecia
The document suggests "anisotrichosis" as a new term for hair thickness variation in common baldness.
research Evaluation of Retinal Changes in Women with Different Phenotypes of Polycystic Ovary Syndrome
Women with PCOS have distinct retinal changes compared to healthy women.
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 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Criteria for Defining Polycystic Ovary Syndrome as a Predominantly Hyperandrogenic Syndrome: An Androgen Excess Society Guideline
Polycystic Ovary Syndrome should be seen mainly as a condition of excess male hormones, with a focus on this in its definition.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Increased Macrophage Migration Inhibitory Factor (MIF) in the Sera of Patients with Extensive Alopecia Areata
Patients with severe alopecia areata have higher levels of MIF, which decrease after successful treatment.
research Skinny Fat Cells Stimulate Wound Healing
Skinny fat cells help wounds heal faster by releasing fatty acids.
research Role of macrophages in collagen resorption during hair growth cycle
Macrophages help break down collagen around hair follicles during hair growth.
research A Quantitative Measurement Method for Nuclear-Pleomorphism Scoring in Breast Cancer
A new method accurately measures cell changes in breast cancer.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research #1697882 "A" Vitamin to Consider: Refractory Hypercalcemia from Vitamin A Toxicity
Vitamin A toxicity can cause serious health issues like hypercalcemia and is often overlooked.
research 165 Single-cell RNA sequencing analysis unveils highly active yet diminished CD14+CD16- circulating monocytes, independent of alopecia areata severity
Highly active but fewer CD14+CD16- monocytes are found in Alopecia Areata patients, regardless of severity.
research Collective heterogeneity of mitochondrial potential in contact inhibition of proliferation
Mitochondrial activity varies in cells before they stop growing, affecting their growth potential.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Cachexia and graft-vs.-host-disease-type skin changes in keratin promoter-driven TNF alpha transgenic mice.
TNF alpha in skin cells causes weight loss, hair and fat issues, and skin inflammation in mice.
research Ligand‐independent epidermal growth factor receptor hyperactivation increases sebaceous gland size and sebum secretion in mice
EGFR hyperactivation increases sebaceous gland size and sebum production in mice.
research Macrophages Regulate Schwann Cell Maturation after Nerve Injury
Macrophages help heal nerves by aiding the maturation of Schwann cells and are important for nerve repair.
research DNA Damage Response Mediates Pressure Overload–Induced Cardiomyocyte Hypertrophy
Targeting ATM could help manage heart cell enlargement due to pressure overload.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Acquired Localized Longitudinal Pachyonychia and Onychomatrical Tumors: A Comparative Study to Onychomatricomas (5 Cases) and Onychocytic Matricomas (4 Cases)
Larger nail cavity sizes suggest benign tumors, while smaller ones may need further biopsy to rule out cancer.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Invasive giant pituitary macroadenoma causing Cushing disease; a case report
Giant pituitary macroadenomas causing Cushing disease are rare and may need extra treatment if surgery fails.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.