LIVIVO - Search results -

Search results

Result 1 - 10 of total 138

Search options

Article ; Online: Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K

Gao, Jian / McClenaghan, Conor / Matreyek, Kenneth A / Grange, Dorothy K / Nichols, Colin G

The Journal of pharmacology and experimental therapeutics

2023 Volume 386, Issue 3, Page(s) 298–309

Abstract: Gain-of-function of ... ...

Abstract	Gain-of-function of K
MeSH term(s)	Humans ; Glyburide/pharmacology ; Glyburide/metabolism ; Pinacidil/pharmacology ; HEK293 Cells ; KATP Channels/genetics ; KATP Channels/metabolism ; Sulfonylurea Receptors/genetics ; Sulfonylurea Receptors/metabolism ; Mutation ; Cardiomegaly/genetics ; Adenosine Triphosphate/metabolism
Chemical Substances	Glyburide (SX6K58TVWC) ; Pinacidil (7B0ZZH8P2W) ; KATP Channels ; Sulfonylurea Receptors ; Adenosine Triphosphate (8L70Q75FXE)
Language	English
Publishing date	2023-08-01
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	3106-9
ISSN	1521-0103 ; 0022-3565
ISSN (online)	1521-0103
ISSN	0022-3565
DOI	10.1124/jpet.123.001659
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Uf I Zs.40: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Siblings with a novel MED12 variant and Odho syndrome with immune defects.

Rubin, Zachary / Grange, Dorothy K / Cooper, Megan A

Clinical genetics

2020 Volume 98, Issue 3, Page(s) 308–310

Language	English
Publishing date	2020-07-26
Publishing country	Denmark
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13806
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 413: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article: Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.

Wongkittichote, Parith / Cuddapah, Sanmati R / Master, Stephen R / Grange, Dorothy K / Dietzen, Dennis / Roper, Stephen M / Ganetzky, Rebecca D

JIMD reports

2023 Volume 64, Issue 5, Page(s) 367–374

Abstract: Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto-acid dehydrogenases: pyruvate dehydrogenase, alpha-ketoglutarate ... ...

Abstract	Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto-acid dehydrogenases: pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, branched-chain α-keto-acid dehydrogenase, and 2-oxoadipate dehydrogenase. DLD deficiency (DLDD) is caused by biallelic pathogenic variants in
Language	English
Publishing date	2023-08-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	2672872-2
ISSN	2192-8312 ; 2192-8304
ISSN (online)	2192-8312
ISSN	2192-8304
DOI	10.1002/jmd2.12382
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.

Singh, Prapti / Amaro, Deirdre / Obi, Olugbemisola / Kiran, Fnu / Hediger, Erin / Toler, Tomi L / Dickson, Patricia I / Grange, Dorothy K

JIMD reports

2023 Volume 64, Issue 4, Page(s) 261–264

Abstract: Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive long chain fatty acid β-oxidation disorder with a variable clinical spectrum, ranging from an acute neonatal presentation with cardiac and hepatic failure to childhood or ...

Abstract	Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive long chain fatty acid β-oxidation disorder with a variable clinical spectrum, ranging from an acute neonatal presentation with cardiac and hepatic failure to childhood or adult onset of symptoms with hepatomegaly or rhabdomyolysis provoked by illness or exertion. Neonatal cardiac arrest or sudden unexpected death can be the presenting phenotype in some patients, emphasizing the importance of early clinical suspicion and intervention. We report a patient who had a cardiac arrest and died at one day of age. Following her death, the newborn screen reported biochemical evidence of VLCAD deficiency, which was confirmed with pathologic findings at autopsy and by molecular genetic testing.
Language	English
Publishing date	2023-04-30
Publishing country	United States
Document type	Case Reports
ZDB-ID	2672872-2
ISSN	2192-8312 ; 2192-8304
ISSN (online)	2192-8312
ISSN	2192-8304
DOI	10.1002/jmd2.12365
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Novel LIAS variants in a patient with epilepsy and profound developmental disabilities.

Wongkittichote, Parith / Chhay, Chanseyha / Zerafati-Jahromi, Gazelle / Weisenberg, Judith L / Mian, Ali / Jensen, Laran T / Grange, Dorothy K

Molecular genetics and metabolism

2023 Volume 138, Issue 3, Page(s) 107373

Abstract: Multiple mitochondrial enzymes employ lipoic acid as a coenzyme. Pathogenic variants in LIAS, encoding lipoic acid synthase (LIAS), are associated with autosomal recessive LIAS-related disorder (OMIM# 614462). This disorder is characterized by infantile- ... ...

Abstract	Multiple mitochondrial enzymes employ lipoic acid as a coenzyme. Pathogenic variants in LIAS, encoding lipoic acid synthase (LIAS), are associated with autosomal recessive LIAS-related disorder (OMIM# 614462). This disorder is characterized by infantile-onset hypotonia, profound psychomotor delay, epileptic encephalopathy, nonketotic hyperglycinemia, and lactic acidosis. We present the case of a 20-year-old female who experienced developmental deficits at the age of 6 months and began to have seizures at 3 years of age. Exome sequencing revealed compound heterozygous novel variants in LIAS, designated c.277delC (p.Leu93Ter) and c.542A > T (p.Asp181Val). The p.Leu93Ter variant is predicted to cause loss of function due to the severe truncation of the encoded protein. To examine the p.Asp181Val variant, functional analysis was performed using Baker's yeast (Saccharomyces cerevisiae) lacking LIP5, the homologue of human LIAS. Wild-type LIAS promoted oxidative growth of the lip5∆ yeast strain. In contrast, lip5∆ yeast expressing p.Asp181Val exhibited poor growth, similar to known pathogenic variants, p.Asp215Glu and p.Met310Thr. Our work has expanded the phenotypic and genotypic spectrum of LIAS-related disorder and established the use of the yeast model as a system for functional study of novel missense variants in LIAS.
MeSH term(s)	Adult ; Child ; Female ; Humans ; Infant ; Young Adult ; Developmental Disabilities/genetics ; Epilepsy/genetics ; Muscle Hypotonia ; Saccharomyces cerevisiae ; Sulfurtransferases/genetics
Chemical Substances	lipoic acid synthase (EC 2.8.1.-) ; Sulfurtransferases (EC 2.8.1.-) ; LIAS protein, human (EC 2.8.1.8)
Language	English
Publishing date	2023-01-07
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2023.107373
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 617: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

Starosta, Rodrigo Tzovenos / Kerashvili, Nino / Pruitt, Cassandra / Schultz, Matthew J / Boyer, Suzanne W / Morava, Eva / Lasio, Maria Laura Duque / Grange, Dorothy K

JIMD reports

2023 Volume 64, Issue 6, Page(s) 424–433

Abstract: The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins. Bi-allelic pathogenic ... ...

Abstract	The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins. Bi-allelic pathogenic variants in
Language	English
Publishing date	2023-09-20
Publishing country	United States
Document type	Case Reports
ZDB-ID	2672872-2
ISSN	2192-8312 ; 2192-8304
ISSN (online)	2192-8312
ISSN	2192-8304
DOI	10.1002/jmd2.12396
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia.

Markham, Christopher / Williams, Caroline / Miller, Cory / Grange, Dorothy K / Davis, T Keefe / Remy, Kenneth E

Frontiers in pediatrics

2021 Volume 9, Page(s) 732354

Abstract: Objectives: ...

Abstract	Objectives:
Language	English
Publishing date	2021-11-05
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2021.732354
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome.

Singh, Gautam K / McClenaghan, Conor / Aggarwal, Manish / Gu, Hongjie / Remedi, Maria S / Grange, Dorothy K / Nichols, Colin G

Journal of the American Heart Association

2022 Volume 11, Issue 24, Page(s) e027363

Abstract: Background Cardiomegaly caused by left ventricular hypertrophy is a risk factor for development of congestive heart failure, classically associated with decreased systolic and/or diastolic ventricular function. Less attention has been given to the ... ...

Abstract	Background Cardiomegaly caused by left ventricular hypertrophy is a risk factor for development of congestive heart failure, classically associated with decreased systolic and/or diastolic ventricular function. Less attention has been given to the phenotype of left ventricular hypertrophy with enhanced ventricular function and increased cardiac output, which is potentially associated with high-output heart failure. Lack of recognition may pose diagnostic ambiguity and management complexities. Methods and Results We sought to systematically characterize high-output cardiac hypertrophy in subjects with Cantu syndrome (CS), caused by gain-of-function variants in
MeSH term(s)	Humans ; Male ; Adenosine Triphosphate ; Cardiomegaly/genetics ; Heart Failure/complications ; Hypertrophy, Left Ventricular/diagnostic imaging ; Hypertrophy, Left Ventricular/genetics ; Hypertrophy, Left Ventricular/complications ; KATP Channels ; Phenotype ; Vascular Resistance ; Female ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Osteochondrodysplasias/genetics ; Hypertrichosis/genetics
Chemical Substances	Adenosine Triphosphate (8L70Q75FXE) ; KATP Channels
Language	English
Publishing date	2022-12-14
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2653953-6
ISSN	2047-9980 ; 2047-9980
ISSN (online)	2047-9980
ISSN	2047-9980
DOI	10.1161/JAHA.122.027363
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.

Schneider, Holm / Hadj-Rabia, Smail / Faschingbauer, Florian / Bodemer, Christine / Grange, Dorothy K / Norton, Mary E / Cavalli, Riccardo / Tadini, Gianluca / Stepan, Holger / Clarke, Angus / Guillén-Navarro, Encarna / Maier-Wohlfart, Sigrun / Bouroubi, Athmane / Porte, Florence

Genes

2023 Volume 14, Issue 1

Abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, resulting in serious, ... ...

Abstract	X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, resulting in serious, sometimes life-threatening complications like hyperthermia or recurrent respiratory infections. It is caused by pathogenic variants of the ectodysplasin A gene (
MeSH term(s)	Female ; Pregnancy ; Male ; Humans ; Ectodermal Dysplasia 1, Anhidrotic/genetics ; Prospective Studies ; Ectodermal Dysplasia/genetics ; Ectodysplasins/genetics ; Skin ; Clinical Trials, Phase II as Topic
Chemical Substances	Ectodysplasins
Language	English
Publishing date	2023-01-06
Publishing country	Switzerland
Document type	Clinical Trial Protocol ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14010153
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations.

Hanson, Alex / McClenaghan, Conor / Weng, Kuo-Chan / Colijn, Sarah / Stratman, Amber N / Halabi, Carmen M / Grange, Dorothy K / Silva, Jonathan R / Nichols, Colin G

bioRxiv : the preprint server for biology

2023

Abstract: Objective: Cantu Syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by GoF variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (K : Approach and results: Whole-cell voltage-clamp of isolated aortic and ...

Abstract	Objective: Cantu Syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by GoF variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (K Approach and results: Whole-cell voltage-clamp of isolated aortic and mesenteric VSMCs isolated from wild type (WT) and Kir6.1[V65M] (CS) mice revealed no difference in voltage-gated K Conclusions: The results show that hiPSC-VSMCs reiterate expression of the same major ion currents as primary VSMCs, validating the use of these cells to study vascular disease. The results further indicate that both the hypomyotonic and hyperelastic components of CS vasculopathy are cell-autonomous phenomena driven by K
Language	English
Publishing date	2023-07-01
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.06.29.547088
Database	MEDical Literature Analysis and Retrieval System OnLINE

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Inter-library loan at ZB MED