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[Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2023
Medical Genetics Center, Gansu Provincial Maternity and Child Health Care Hospital, Lanzhou, Gansu 730050, China.
Objective: To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII.
Methods: A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected.
CLPB Deficiency Associated Neonatal Cavitating Leukoencephalopathy: A Potential Pathomechanism Underlying Neurologic Disorder.
Pediatr Dev Pathol
April 2024
Département d'Anatomie et Cytologie pathologiques, Hôpital Menzel Bourguiba, Menzel Bourguiba, Tunisia.
Caseinolytic peptidase B homolog (CLPB) is a mitochondrial protein which is highly expressed in brain. Its deficiency may be associated with severe neonatal encephalopathy. This report describes a case of fatal neonatal encephalopathy associated with biallelic stop-gain mutation in (NM_001258392.
View Article and Find Full Text PDFCase of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Am J Med Genet A
December 2023
College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA.
[CLPB gene mutations analysis in a case of type 3-methylglutaconic aciduria].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
September 2020
Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Objective: To validate the diagnosis of an infant with elevated urine 3-methylglutaconic acid (3-MGA) through sequencing of the CLPB gene.
Methods: Genomic DNA of the infant was sequenced by next generation sequencing (NGS), and candidate pathogenic variants were verified by Sanger sequencing and bioinformatics analysis.
Results: NGS has revealed that the infant has carried a c.
Gut bacterial ClpB-like gene function is associated with decreased body weight and a characteristic microbiota profile.
Microbiome
April 2020
Department of Diabetes, Endocrinology and Nutrition, Dr. Josep Trueta University Hospital, Carretera de França s/n, 17007, Girona, Spain.
Background: The chaperone ClpB, a bacterial protein, is a conformational antigen-mimetic of α-melanocyte-stimulating hormone (α-MSH) implicated in body weight regulation in mice. We here investigated the potential associations of gut bacterial ClpB-like gene function with obesity status and gut microbiota in humans.
Results: Gut microbiota ClpB KEGG function was negatively associated with body mass index, waist circumference, and total fat mass (DEXA).
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