research Prenatal transplantation of epidermal neural crest stem cells in malformation of cortical development mouse model
EPI-NCSCs from hair follicles may help treat brain development issues in mice.
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480-510 / 1000+ resultsresearch 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research DNMT3B -579G>T POLYMORPHİSM AND THE RİSK OF COLORECTAL CANCER IN AZERBAİJAN POPULATİON
The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Improved genetic diagnosis of PCOS can lead to better patient outcomes.
research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
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 A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
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.
research [Association of eight single nucleotide polymorphisms of chromosomes 20 and X with androgenetic alopecia among ethnic Han Chinese from Yunnan].
Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
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 INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.