research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
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research Radyoterapinin Metastatik Meme Kanseri Hücrelerindeki Mitokondri İlişkili Yolaklar Üzerine Etkisi
Radiotherapy affects mitochondrial-related genes in metastatic breast cancer cells.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research Identification and dissection of an enhancer controlling epithelial gene expression in skin
A specific DNA region controls skin cell gene expression by working with certain proteins.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Gene profile analysis of colorectal cancer cell lines by cDNA macroarray
Colorectal cancer's ability to spread is due to changes in many genes, not just one.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research Joint Public Review: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
Meis2 is essential for touch sensation and nerve function in mice.
research Food Deprivation-induced Expression of Minoxidil Sulfotransferase in the Hypothalamus Uncovered by Microarray Analysis
Food deprivation increases MST enzyme in the brain, possibly affecting energy balance.
research MG53 Mitigates Nitrogen Mustard-Induced Skin Injury
MG53 helps reduce skin damage caused by nitrogen mustard.
research Cellular localization of retinoic acid receptor-gamma expression in normal and neoplastic skin.
RAR-gamma 1 is important for normal skin maintenance and differentiation.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Genomic Analysis of Trichotillomania
Trichotillomania may have a genetic link to psychiatric disorders.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
CDP is crucial for lung and hair follicle cell development.
research Evolution in action: highlighting a role for the Agouti gene in development?
The Agouti gene influences pigmentation and may have a developmental role in deer mice.
research Gene Expression Profiles of Melanocytes Over-Expressing miR-5110 in Alpaca
miR-5110 affects alpaca pigmentation by altering specific gene expressions.
research Inducible Cutaneous Inflammation Reveals a Protumorigenic Role for Keratinocyte CXCR2 in Skin Carcinogenesis
CXCR2 in skin cells promotes tumor growth.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research 137 Loss of myeloid Mcpip1 suppresses hair growth and development of epidermal papilloma of the skin
Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells
A truncated protein linked to breast cancer may change cell adhesion.
research Identification of xenobiotics interfering with 5 α -reductase (SRD5A2) activity
MK-0773 is a moderate inhibitor of the SRD5A2 enzyme.
research Novel anti-aging gene NM_026333 contributes to proton-induced aging via NCX1-pathway
The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
research INNOVATIVE APPROACH TO CRC PREVENTION: THE ROLE OF LOW-PENETRATION GENES
Low-penetration genes might help personalize colorectal cancer prevention.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.