Search Results - eirini+(irini)+manoli

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Transgenic Mouse Model for Marfan Syndrome Research
Description: A genetically modified mouse model carrying the FBN1Q2469X mutation enables advanced study of systemic Marfan Syndrome manifestations and therapeutic development. This innovative transgenic mouse model incorporates a mutation analogous to the human FBN1Q2467X gene mutation linked to Marfan Syndrome, resulting in fibrillin-1 deficiency...
Published: 12/23/2025   |   Updated: 12/23/2025   |   Inventor(s): Li Li, Shichao Wu, Jiawei Zhao
Keywords(s):  
Category(s): Technology Category > Research tools, Technology Category > Animal models, Technology Category > Biology, Technology Category > Diagnostic
Treating Kidney Disorders and Diabetic Nephropathy with N-acetyl mannosamine (ManNAc)
N-acetylmannosamine (ManNAc) is a small uncharged physiological molecule that crosses membranes readily and is the natural precursor of intracellular sialic acid synthesis. NHGRI investigators discovered that ManNAc can be used for therapeutic purposes, including treating certain kidney diseases (e.g., those involving abnormal levels of protein in the...
Published: 4/28/2026   |   Updated: 9/15/2023   |   Inventor(s): Marjan Huizing, William Gahl, Eirini (Irini) Manoli, Enriko Klootwijk
Keywords(s):  
Category(s): Application > Therapeutics
Serum Protein Biomarkers that Predict the Response to Liver Directed Therapy in Methymalonic Acidemia (MMA) and Propionic Acidemia (PA)
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. The most common cause of isolated MMA is genetic deficiency of the enzyme methylmalonyl-coA mutase (MUT), which, unfortunately for the affected patients, is also the most clinically severe. NHGRI scientist have discovered biomarkers...
Published: 10/28/2024   |   Updated: 12/6/2022   |   Inventor(s): Eirini (Irini) Manoli, Charles Venditti
Keywords(s): Acidemia, Biomarkers, Directed, liver, Methymalonic, MMA, PREDICT, Protein, RESPONSE, SERUM, That, THERAPY, VPXXXX, WBXXXX, WIXXXX, XCXXXX, XEXXXX
Category(s): Application > Diagnostics, TherapeuticArea > Ophthalmology, Application > Research Materials, TherapeuticArea > Cardiology, TherapeuticArea > Oncology, TherapeuticArea > Dental, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Infectious Disease
Novel mouse model of mut- methylmalonic acidemia (MMA) Mut-/- Tg CBAMutG715V : Mut partial-deficiency
Methylmalonic acidemia (MMA) is an autosomal recessive disorder, caused by the deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). It is characterized by metabolic instability, multiorgan pathology, and poor prognosis for long-term survival. A well-characterized human mutation, p.G717V, has been introduced into mice. This mutation...
Published: 10/28/2024   |   Updated: 12/6/2022   |   Inventor(s): Randy Chandler, Eirini (Irini) Manoli, Charles Venditti
Keywords(s): :, Acidemia, CBAMutG715V, Methylmalonic, MMA, Model, Mouse, MUT, Mut-, Mut-/-, Novel, Partial-deficiency, Tg, VPXXXX, WIXXXX, XEXXXX
Category(s): TherapeuticArea > Ophthalmology, Application > Research Materials, TherapeuticArea > Cardiology, TherapeuticArea > Oncology, Application > Therapeutics, TherapeuticArea > Endocrinology, TherapeuticArea > Dental, TherapeuticArea > Infectious Disease
Novel mouse model of methylmalonic acidemia (MMA) Mut-/- Tg INS-Mck-Mut
Methylmalonic acidemia (MMA) is an autosomal recessive disorder, caused by the deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). It is characterized by metabolic instability, multiorgan pathology, and poor prognosis for long-term survival. Deletion of Mut in mice results in neonathal lethality, thus, to overcome this limitation,...
Published: 10/28/2024   |   Updated: 12/6/2022   |   Inventor(s): Eirini (Irini) Manoli, Randy Chandler, Charles Venditti
Keywords(s): Acidemia, INS-Mck-Mut, Methylmalonic, MMA, Model, Mouse, Mut-/-, Novel, Tg, VPXXXX, WIXXXX, XEXXXX
Category(s): TherapeuticArea > Cardiology, TherapeuticArea > Oncology, TherapeuticArea > Dental, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Ophthalmology, TherapeuticArea > Infectious Disease, Application > Research Materials
Non-invasive Isotopic Biomarkers that Predict the Response to Liver Directed Therapy in Methymalonic Acidemia (MMA) and Propionic Acidemia (PA)
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. The most common cause of isolated MMA is genetic deficiency of the enzyme methylmalonyl-coA mutase (MUT), which, unfortunately for the affected patients, is also the most clinically severe. NHGRI scientist have invented a series...
Published: 10/28/2024   |   Updated: 12/6/2022   |   Inventor(s): Eirini (Irini) Manoli, Charles Venditti
Keywords(s): Acidemia, Biomarkers, Directed, ISOTOPIC, liver, Methymalonic, MMA, NON-INVASIVE, PREDICT, RESPONSE, That, THERAPY, VPXXXX, WFXXXX, WIXXXX, XCXXXX
Category(s): Application > Occupational Safety and Health, Application > Research Materials, Application > Diagnostics, TherapeuticArea > Dental, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Endocrinology, Application > Consumer Products, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology
High Concentration Methylcobalamin (Me-Cbl) or Combination of Methyl- and Hydroxocobalamin (Me/OH-Cbl) for the Treatment of Cobalamin C Deficiency and Related Disorders
Cobalamin C deficiency (cblC), caused by mutations in MMACHC, is the most common inborn error of intracellular vitamin B12 metabolism. NHGRI scientist have generated a number of Mmachc knockout mouse models. The cblC mice present with early lethality, recapitulate the neurological phenotype seen in patients, and have enabled proof of concept testing...
Published: 10/28/2024   |   Updated: 12/6/2022   |   Inventor(s): Jennifer Sloan, Eirini (Irini) Manoli, Charles Venditti
Keywords(s): C, Cobalamin, Combination, Concentration, DEFICIENCY, DISORDERS, High, Hydroxocobalamin, Me/OH-Cbl, Me-Cbl, Methyl-, Methylcobalamin, RELATED, treatment, VPXXXX, WKXXXX
Category(s): Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Dental
Mouse Model of Cobalamin A (cblA) Class Isolated Methylmalonic Acidemia (MMA) to Study New Therapies
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. Most affected individuals display severe multisystemic disease characterized by metabolic instability, chronic renal disease, and neurological complications. Patients with the cobalamin A (cblA) subtype of MMA can have variable...
Published: 10/28/2024   |   Updated: 12/6/2022   |   Inventor(s): Eirini (Irini) Manoli, Charles Venditti
Keywords(s): Acidemia, cblA, Class, Cobalamin, ISOLATED, Methylmalonic, MMA, Model, Mouse, VEXXXX, VPXXXX, WKXXXX, XCXXXX
Category(s): TherapeuticArea > Oncology, TherapeuticArea > Neurology, TherapeuticArea > Cardiology, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, TherapeuticArea > Infectious Disease, Application > Research Materials, Application > Diagnostics
Mouse Model for Methylmalonic Acidemia, an Inherited Metabolic Disorder
Methylmalonic Acidemia (MMA) is a metabolic disorder affecting 1 in 25,000 to 48,000 individuals globally. MMA is characterized by increased acidity in the blood and tissues due to toxic accumulation of protein and fat by-products resulting in seizures, strokes, and chronic kidney failure. About 60% of MMA cases stem from mutations in the methylmalonyl...
Published: 10/28/2024   |   Updated: 12/6/2022   |   Inventor(s): Eirini (Irini) Manoli, Charles Venditti
Keywords(s): Dysfunction, metabolic disorder, Methylmalonic acidemia, Methylmalonyl-CoA, methylmalonyl-CoA mutase, MITOCHONDRIAL, MMA, Model, Mouse, MUT, RENAL, RXXXXX, TRANSGENIC, transgenic mouse, YAXXXX, YBXXXX, YCXXXX
Category(s): Collaboration Sought > Collaboration, Application > Research Materials
PMU-Embedded Analytics for Online Event Detection and Classification in Power Grids
The energy requirement of the world is increasing exponentially every year. With the power demand sites concentrated in the region with the highest population density, energy production sites must be located remotely. This isolation requires lengthy and complicated grids to be designed and manufactured to transmit power over long distances. Grid failures...
Published: 1/9/2026   |   Updated: 1/13/2022   |   Inventor(s): Payman Dehghanian, Shiyuan Wang, Li Li
Keywords(s):  
Category(s): Technology Classifications > Industrial or Consumer Tech > Energy Infrastructure and Environment
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