research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
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research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Forensic DNA phenotyping: the need for proportionate regulation and judicial clarity in law enforcement
Unified regulations and ethical guidelines are needed for fair use of forensic DNA phenotyping.
research Epidermal Dysplasia and Abnormal Hair Follicles in Transgenic Mice Overexpressing Homeobox Gene MSX-2
Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Inducible Cutaneous Inflammation Reveals a Protumorigenic Role for Keratinocyte CXCR2 in Skin Carcinogenesis
CXCR2 in skin cells promotes tumor growth.
research GPX4 mRNA levels in the PMNs are negatively correlated with autoantibody production, disease activity and lupus alopecia in SLE
Lower GPX4 mRNA levels are linked to higher disease activity and symptoms in lupus patients.
research Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
Different PADI isoforms help cells develop diverse functions.
research Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/– mice
Targeting ornithine decarboxylase can help prevent skin cancer.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research 035 Expansion of bacterial phosphatidylglycerol reactive CD4+ T cells in atopic dermatitis
People with atopic dermatitis have more CD4+ T cells that respond to a certain bacterial lipid, which may play a role in the skin condition's inflammation.
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.
research Pathogenesis of Hand-Foot Syndrome induced by PEG-modified liposomal Doxorubicin
PEGL-DOX causes Hand-Foot Syndrome due to skin reactions from prolonged circulation and ROS generation.
research M2 Macrophage and Extracellular Matrix Genes Are Enriched in High‐Activity Lichen Planopilaris
Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Expression of enhancing factor/phospholipase A2 in skin results in abnormal epidermis and increased sensitivity to chemical carcinogenesis
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Association of Single Nucleotide Polymorphisms in the CYP19A1 Gene with Female Pattern Hair Loss in a Chinese Population
Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
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 A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Characterization of X-Linked SNP genotypic variation in globally distributed human populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.