Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids
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DOI: 10.1002/mgg3.1494
Abstract: Homozygous or compound heterozygous pathogenic variants in the thromboxane A synthase 1 (TBXAS1) gene are associated with Ghosal hematodiaphyseal dysplasia (GHDD) which is characterized by defective hematopoiesis and increased bone density of long bones. read more here.
Keywords: novel compound; compound heterozygous; hematodiaphyseal dysplasia; ghosal hematodiaphyseal ... See more keywords
Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9
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DOI: 10.1002/mgg3.2010
Abstract: Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a pivotal role in… read more here.
Keywords: dna depletion; depletion; depletion syndrome; compound heterozygous ... See more keywords
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X
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DOI: 10.1007/s00198-018-4448-2
Abstract: SummaryWe identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs… read more here.
Keywords: mutations serpinh1; novel compound; heterozygous mutations; type ... See more keywords
A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease
Sign Up to like & getrecommendations! Published in 2020 at "Neurological Sciences"
DOI: 10.1007/s10072-020-04377-7
Abstract: EPM2A has been certified as a causative gene in patients with Lafora disease (LD), which is a rare autosomal recessive and severe form of progressive myoclonus epilepsy. LD classically starts in adolescence, characterized by various… read more here.
Keywords: lafora disease; novel compound; heterozygous epm2a; compound heterozygous ... See more keywords
Synthesis of a novel compound based on chitosan and ammonium polyphosphate for flame retardancy applications
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DOI: 10.1007/s10570-019-02671-y
Abstract: In this investigation, a novel compound (NCSAPP) based on chitosan (CS) and ammonium polyphosphate (APP) was synthesized by employing solutions of chitosan and ammonium polyphosphate. The synthesized compound was characterized using FTIR, PXRD, XPS, FESEM,… read more here.
Keywords: ammonium polyphosphate; novel compound; chitosan ammonium;
Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Biology Reports"
DOI: 10.1007/s11033-017-4129-9
Abstract: In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. Whole-exome sequencing was performed to study the genetic causes of Usher syndrome in… read more here.
Keywords: exome sequencing; novel compound; mutations gpr98; moroccan deaf ... See more keywords
Papillon–Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene
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DOI: 10.1007/s11033-020-05622-0
Abstract: Papillon Lefevre syndrome (PLS) manifests with palmoplantar keratoderma, combined with a rapidly progressive periodontitis associated with mutations in Cathepsin C ( CTSC ) gene. This article reports a 15-year old male proband with typical PLS… read more here.
Keywords: pls; y259c; syndrome pls; novel compound ... See more keywords
Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient
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DOI: 10.1007/s13205-021-02761-4
Abstract: Retinitis pigmentosa (RP) is a rare and heterogeneous group of inherited ocular diseases. However, the relationship between CACNA2D4 mutations and RP is not well understood. In this study, a Chinese autosomal recessive retinitis pigmentosa (arRP)… read more here.
Keywords: retinitis pigmentosa; cacna2d4; novel compound; compound heterozygous ... See more keywords
A preliminary metabolites identification of a novel compound with β-adrenolytic activity
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DOI: 10.1007/s43440-021-00273-9
Abstract: Background The identification of main metabolites and assessment of renal excretion of a novel compound with β-adrenolytic activity (2RS)-1-(1H-indol-4-yloxy)-3-((2-(2-methoxyphenoxy)ethyl)amino)propan-2-ol, briefly called (RS)-9 or 2F109, were studied in vivo in rat serum, urine, faeces, liver, intestine,… read more here.
Keywords: compound adrenolytic; mass; novel compound; compound ... See more keywords
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.
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DOI: 10.1016/j.ejmg.2017.08.002
Abstract: Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern… read more here.
Keywords: whole exome; novel compound; exome sequencing; compound heterozygous ... See more keywords
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
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DOI: 10.1016/j.gene.2019.03.023
Abstract: INTRODUCTION Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects. DOCK6 (Dedicator of cytokinesis 6) is one of the… read more here.
Keywords: oliver syndrome; novel compound; heterozygous mutations; adams oliver ... See more keywords