research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
Search
for
Sort by
Research
390-420 / 1000+ resultsresearch Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Beta Human Papillomavirus and Merkel Cell Polyomavirus in Skin Neoplasms
Beta-HPV and MCPyV are linked to certain skin cancers, with ongoing research and vaccine development.
research Human melanocyte development and melanoma dedifferentiation at single cell resolution
Human melanocytes have unique traits that affect melanoma development and prognosis.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Chronic overlapping pain conditions and nociplastic pain
Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Decision letter: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
research Beyond the Epidermal-Melanin-Unit: The Human Scalp Anagen Hair Bulb Is Home to Multiple Melanocyte Subpopulations of Variable Melanogenic Capacity
The human scalp has different types of pigment cells in hair follicles with varying abilities to produce pigment.
research LncRNA NEAT1 and miRNA 101 as potential diagnostic biomarkers in patients with alopecia areata
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
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 Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Poster presentationsDP11 Bright, eosinophilic intracytoplasmic inclusion bodies: a rare presentation of acquired epidermodysplasia verruciformis with widespread human papillomavirus infection in a transplant recipient
A rare case of a transplant patient developing a skin condition linked to HPV-49.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Neural crest cells and their potential therapeutic applications
Neural crest cells could be used in regenerative medicine due to their ability to become different cell types.
research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research Multi-dermatomal unilateral nevus comedonicus along the lines of Blaschko: a rare presentation
A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
research Intermittent and Persistent Type 2 lupus: patient perspectives on two distinct patterns of Type 2 SLE symptoms
SLE patients experience two patterns of non-inflammatory symptoms: intermittent and persistent.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.