research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
Search
for
Sort by
Research
510-540 / 1000+ resultsresearch Organoid‐Guided Precision Medicine: From Bench to Bedside
Organoid technology is improving personalized medicine by better predicting drug responses and treatments.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Testicular Steroidogenesis
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
Deleting part of a gene in mice causes wavy hair and high pup loss.
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
research Polymorphism of genes in patients with new coronavirus infection COVID-19
Genetic differences affect COVID-19 severity and treatment effectiveness.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Topical Gene Electrotransfer to the Epidermis of Hairless Guinea Pig by Non-Invasive Multielectrode Array
The method safely and efficiently delivers genes to the skin but may not work for conditions needing high levels of gene products.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research The PCOS Phenotypes in Unselected Populations (P-PUP) study: participant clinical features and data harmonization on analysis of individual participant data
PCOS affects 11% of women, highlighting the need for standardized diagnosis.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research Proteolysis‐targeting chimeras in cancer therapy: Targeted protein degradation for next‐generation treatment
PROTACs offer a new, precise way to treat cancer by breaking down harmful proteins.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Utilising SNP Association Analysis as a Prospective Approach for Personalising Androgenetic Alopecia Treatment
Genetic factors could lead to personalized treatments for hair loss.
research Decision letter: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
research Biomedical applications of organoids in genetic diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
research Genetics of Polycystic Ovary Syndrome
PCOS has a strong genetic basis, but more research is needed to fully understand it.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.