research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
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900-930 / 1000+ resultsresearch 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 Generalised Glucocorticoid Resistance
Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research The ITGB6 gene: its role in experimental and clinical biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research 412 High amphiregulin expression is a high-risk feature of acute graft-versus-host disease of the skin
High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
research The keratin proteins and genes of wool and hair.
Keratin gene regulation was emerging, with a key transcription factor found to influence hair growth and gene expression.
research The Two Functional Keratin 6 Genes of Mouse Are Differentially Regulated and Evolved Independently from Their Human Orthologs
Mouse keratin 6 genes evolved independently from human ones and are regulated differently.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Spatial Gene Profiling in the Ischemic Heart
A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
research Androgen receptor-mediated gene activation in prostate cancer cells
Androgen receptors help prostate cancer cells grow and resist drugs.
research Androgen receptor CAG repeat length is associated with ovarian reserve but not with ovarian response
The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Prediction of male-pattern baldness from genotypes
Genetic data can predict male-pattern baldness with moderate accuracy, especially for early-onset cases in some European men.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
New genetic locations explain much of hair color variation in Europeans.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research JAK-centric explainable few-shot gene-expression diagnosis framework for alopecia via MultiPLIER priors and relation-style set-to-set comparison
A new method helps diagnose alopecia areata using specific gene markers and could guide targeted treatments.
research Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
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 Restoration of Spermatogenesis and Male Fertility Using an Androgen Receptor Transgene
Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
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.
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 Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research A Comprehensive Review of GWASs of Human Hair Traits
Genetic studies on hair traits can improve understanding of health and disease.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research The long road traveled in hematopoietic stem cell gene therapy
The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.