research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
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330-360 / 1000+ results research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research Basement membrane changes in lichen planopilaris
Basement membrane changes in lichen planopilaris cause scarring and permanent hair loss.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
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 Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research 413 DC-HIL+ myeloid-derived suppressor cells are elevated in the peripheral blood and lesional skin of cutaneous lupus patients
Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research 1425 Deregulation of toll like receptor signaling and association with caveolin-1 in lichen planopilaris reveals a novel mechanism in pathogenesis of scarring alopecia
The study suggests that changes in immune system receptors and their interaction with a cell component may be important in the development of a type of hair loss condition.
research 707 Chromatin remodeler Lymphoid-specific helicase (Lsh) is a critical determinant controlling postnatal epidermal growth, differentiation and response to injury
Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
research Analysis of lncRNAs Expression Profiles in Hair Follicle of Hu Sheep Lambskin
lncRNAs may regulate hair follicle development in Hu sheep.
research Lamins in development, tissue maintenance and stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research The Transcriptional Co-Activator cAMP Response Element-Binding Protein-Binding Protein Is Expressed in Prostate Cancer and Enhances Androgen- and Anti-Androgen-Induced Androgen Receptor Function
A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP
A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
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 Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research ESDR303 – The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
research Imprinted Dlk1-Gtl2 cluster miRNAs are potential epigenetic regulators of lamb fur quality
miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats
The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.