Molecular Genetics and Metabolism
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#1Shuai Yuan (KI: Karolinska Institutet)H-Index: 11
#2Susanna C. Larsson (KI: Karolinska Institutet)H-Index: 87
BACKGROUND Obesity and type 2 diabetes have been associated with an increased risk of kidney stones in observational studies, but the causality of these associations remains unestablished. We conducted a Mendelian randomization study to determine these associations. METHODS Independent single nucleotide polymorphisms at the genome-wide significance threshold (p < 5 × 10-8) were selected as instrumental variables and were identified from meta-analyses of genome-wide association studies on body ma...
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#1Jenny A. Greig (UPenn: University of Pennsylvania)H-Index: 12
#2Matthew Jennis (UPenn: University of Pennsylvania)
Last. James M. Wilson (UPenn: University of Pennsylvania)H-Index: 166
view all 8 authors...
Abstract null null Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder characterized by a dysfunctional mitochondrial enzyme complex, branched-chain alpha-keto acid dehydrogenase (BCKDH), which catabolizes branched-chain amino acids (BCAAs). Without functional BCKDH, BCAAs and their neurotoxic alpha-keto intermediates can accumulate in the blood and tissues. MSUD is currently incurable and treatment is limited to dietary restriction or liver transplantation, meaning there is...
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#1Praveena Narayanan (Yale University)H-Index: 2
#2Shiny Nair (Yale University)H-Index: 13
Last. Pramod K. Mistry (Yale University)H-Index: 52
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Abstract null null Introduction null The impact of SARS-CoV-2 in rare disease populations has been underreported. Gaucher disease (GD) is a prototype rare disease that shares with SARS-CoV-2 a disruption of the lysosomal pathway. null null null Materials-methods null Retrospective analysis of 11 patients with Type 1 GD who developed COVID-19 between March 2020 and March 2021. null null null Results null Seven male and 4 female patients with Type 1 GD developed COVID-19. One was a pediatric patie...
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#1Thomas Boulin (UCBL: Claude Bernard University Lyon 1)H-Index: 15
#2Omar Itani (WashU: Washington University in St. Louis)
Last. Shino ShimadaH-Index: 1
view all 17 authors...
Neurobeachin (NBEA) was initially identified as a candidate gene for autism. Recently, variants in NBEA have been associated with neurodevelopmental delay and childhood epilepsy. Here, we report on a novel NBEA missense variant (c.5899G > A, p.Gly1967Arg) in the Domain of Unknown Function 1088 (DUF1088) identified in a child enrolled in the Undiagnosed Diseases Network (UDN), who presented with neurodevelopmental delay and seizures. Modeling of this variant in the Caenorhabditis elegans NBEA ort...
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#1Alexander T. Kaczmarek (University of Cologne)H-Index: 2
#2Nike Bahlmann (University of Cologne)
Last. Guenter Schwarz (University of Cologne)H-Index: 26
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Isolated sulfite oxidase deficiency (ISOD) is a rare hereditary metabolic disease caused by absence of functional sulfite oxidase (SO) due to mutations of the SUOX gene. SO oxidizes toxic sulfite and sulfite accumulation is associated with neurological disorders, progressive brain atrophy and early death. Similarities of these neurological symptoms to abundant diseases like neonatal encephalopathy underlines the raising need to increase the awareness for ISOD. Here we report an interdisciplinary...
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CRISPR/Cas9-based technology has revolutionized biomedical research by providing a high-fidelity gene-editing method, foreshadowing a significant impact on the therapeutics of many human genetic disorders previously considered untreatable. However, off-target events represent a critical hurdle before genome editing can be fully established in clinical practice. This mini-review recapitulates some recent advances for detecting and overcoming off-target effects mediated by the CRISPR/Cas9 system t...
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#1Philip M. Farrell (UW: University of Wisconsin-Madison)H-Index: 80
#2Elinor Langfelder-Schwind (ISMMS: Icahn School of Medicine at Mount Sinai)H-Index: 2
Last. Michael H. FarrellH-Index: 19
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Abstract null null Heterozygous (carrier) status for an autosomal recessive condition is traditionally considered to lack significance for an individual's health, but this assumption has been challenged by a growing body of evidence. Carriers of several autosomal recessive disorders and some X-linked diseases are potentially at risk for the pathology manifest in homozygotes. This minireview provides an overview of the literature regarding health risks to carriers of two common autosomal recessiv...
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#1Justin Mak (Stanford University)H-Index: 1
#2Tina M. Cowan (Stanford University)H-Index: 22
Background null Urine and plasma biomarker testing for lysosomal storage disorders by liquid chromatography mass spectrometry (LC-MS) currently requires multiple analytical methods to detect the abnormal accumulation of oligosaccharides, mucopolysaccharides, and glycolipids. To improve clinical testing efficiency, we developed a single LC-MS method to simultaneously identify disorders of oligosaccharide, mucopolysaccharide, and glycolipid metabolism with minimal sample preparation. null Methods ...
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Endocrinology
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Diabetes mellitus
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