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Codon, Nonsense (0):
Recent article
Codon, Nonsense
Abstract
We identify a family in which all known RP/LCA-related genes are unlikely to be associated with their disorder. A combination of homozygosity mapping and exome sequencing identifies a homozygous nonsense mutation, c.496C>T (p.Arg166X), in a gene, KCNJ13, encoding a potassium channel subunit Kir7.1....
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PMID: 21763485
PDF is available here.
PDF is available here.
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Abstract
We describe a human syndrome featuring craniosynostosis, maxillary hypoplasia, delayed tooth eruption, and supernumerary teeth. We performed homozygosity mapping in three unrelated consanguineous Pakistani families and localized the syndrome to a region in chromosome 9. Mutational analysis of candid...
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PMID: 21741611
PDF is available here.
PDF is available here.
Abstract
We first screened all our patients with HPS-like symptoms for mutations in the genes responsible for HPS-1 through HPS-6 and found no functional mutations in 38 individuals. We then examined all eight genes encoding the biogenesis of lysosome-related organelles complex-1, or BLOC-1, proteins in thes...
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PMID: 21665000
PDF is available here.
PDF is available here.
Abstract
We identified two consanguineous pedigrees in which some family members were affected by isolated nail dysplasia that suggested an autosomal-recessive inheritance pattern and was characterized by claw-shaped nails, onychauxis, and onycholysis. Genome-wide SNP array analysis of affected individuals f...
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PMID: 21665003
PDF is available here.
PDF is available here.
Abstract
We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35. We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SR...
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PMID: 21473986
PDF is available here.
PDF is available here.
PLoS Genetics (7)4 2011
Abstract
We provide evidence of a rugged molecular fitness landscape arising during an evolution experiment in an asexual population of Saccharomyces cerevisiae. We identify the mutations that arose during the evolution using whole-genome sequencing and use competitive fitness assays to describe the mutation...
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PMID: 21552329
PDF is available here.
PDF is available here.
Abstract
We performed clinical, radiographic, and genetic studies in three families with symptomatic arterial calcifications. Single-nucleotide-polymorphism analysis, targeted gene sequencing, quantitative polymerase-chain-reaction assays, Western blotting, enzyme measurements, transduction rescue experiment...
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PMID: 21288095
PDF is available here.
PDF is available here.
médecine/sciences (27)6-7 2011
Abstract
Abstract
All family members showed a variable degree of impairment in prenatal growth, with birth weight standard deviation scores (SDS) between -1.65 and -2.37 and birth length SDS between -1.78 and -3.08. Their postnatal growth was also impaired, with height SDS between -1.75 and -4.86. The index case pres...
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PMID: 21811077
PDF is available here.
PDF is available here.
Abstract
We have determined the degeneration process of the TPC3 gene that encodes a member of the two-pore channel (TPC) family recently implicated in Ca(2+) release by nicotinic acid adenine dinucleotide phosphate from intracellular acidic stores in animals. We show that degeneration of TPC3 likely began i...
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PMID: 20463046
PDF is available here.
PDF is available here.
Abstract
We demonstrate clinical, neuroradiological, pathological, and genetic data of a patient with cerebral and spinal CMs. The presence of multiple cerebral CMs and distinct cutaneous vascular lesions, including hyperkeratotic cutaneous capillary-venous malformations, in this patient suggested familial C...
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PMID: 20646827
PDF is available here.
PDF is available here.
Abstract
We describe a Korean family with severe FXII deficiency from F12 mutations. The proband was a 46-year-old woman and was shown to have a markedly prolonged activated partial thromboplastin time at 126.7 s (reference range, 29-42 s) on routine health checkup. She had no history of bleeding tendency. C...
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PMID: 20729721
PDF is available here.
PDF is available here.
Abstract
The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome and risk for WT in 52 patients from 51 families with NS due to WT1 mutations is described....
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PMID: 20595692
PDF is available here.
PDF is available here.
Abstract
Abstract
The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA and HC in Chinese patients, the MMACHC gene was se...
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PMID: 20631720
PDF is available here.
PDF is available here.
Thrombosis and Haemostasis (104)3 2010
Abstract
Although ADAMTS13, the von Willebrand factor (VWF)-cleaving protease, is expressed in a range of tissues, the physiological significance of tissue-specific ADAMTS13 alternative splicing isoforms have yet to be clarified. Screening a panel of human tissues and cell lines revealed a spliced ADAMTS13 t...
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PMID: 20664912
PDF is available here.
PDF is available here.
Abstract
We found no evidence of a Dutch founder for the c.1042C>T mutation in AR ataxia. We report here the first nonsense mutations in CABC1 that most likely lead to complete absence of a functional CABC1 protein. Our results indicate that CABC1 is an important candidate for mutation analysis in progressiv...
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PMID: 20580948
PDF is available here.
PDF is available here.
Abstract
This distinctive phenotype can only be explained by the combined deficiency of functionally important selenoproteins and pinpoints the clinical relevance of selenoproteins and selenium economy in human development....
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PMID: 20501692
PDF is available here.
PDF is available here.
Abstract
We examined two unrelated young female patients who exhibited severe early onset rickets, hypocalcemia, and hypophosphatemia. Both patients had partial alopecia but with different unusual patterns of scant hair. Sequencing of the VDR gene showed that both patients harbored the same unique nonsense m...
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PMID: 21073129
PDF is available here.
PDF is available here.
Abstract
PURPOSE. To identify the genetic defect in a family with variable retinal phenotypes. The proband had a diagnosis of Leber congenital amaurosis (LCA), whereas her two cousins had an early-onset severe retinal dystrophy (EOSRD) with useful vision. A distant family member had retinitis pigmentosa (RP)...
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PMID: 20130272
PDF is available here.
PDF is available here.
Abstract
Abstract
We sought to identify the effects of resveratrol on fat cell biology and to elucidate whether Sirt1 is involved in resveratrol-mediated changes.
Human Simpson-Golabi-Behmel syndrome preadipocytes and adipocytes were used to study proliferation, adipogenic differentiation, glucose upt...
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PMID: 20463039
PDF is available here.
PDF is available here.
Abstract
The nmf240 phenotype closely resembles that reported for Clcn2 knockout mice. The observation that heterozygous nmf240 mice present with a reduced ERG light peak component suggests that CLCN2 is necessary for the generation of this response component....
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PMID: 20071672
PDF is available here.
PDF is available here.
Abstract
A putative mutation causative of the Rdy phenotype has been described as a single base pair deletion in exon 4 of the CRX gene, thus identifying the first animal model for CRX-linked disease that closely resembles the human disease. As such, it will provide valuable insights into the mechanisms unde...
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PMID: 20053974
PDF is available here.
PDF is available here.
Abstract
We hypothesize that VEGFA may be a potential candidate gene associated with the spectrum of LVOTO lesions. However, it remains unclear whether the VEGFA gene is responsible for the development of LVOTO malformations. In this study, we identified three exon mutations in the VEGFA gene in three of 192...
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PMID: 20420808
PDF is available here.
PDF is available here.
Abstract
We now report an inherited skin fragility disorder with a homozygous nonsense mutation in the dystonin gene (DST) that encodes the coiled-coil domain of the epithelial isoform of bullous pemphigoid antigen 1, BPAG1-e (also known as BP230). The mutation, p.Gln1124X, leads to the loss of hemidesmosoma...
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PMID: 20164846
PDF is available here.
PDF is available here.
Abstract
We report the 3.4 A resolution crystal structure of a minimal UPF3b-EJC assembly, consisting of the interacting domains of five proteins (UPF3b, MAGO, Y14, eIF4AIII, and Barentsz) together with RNA and adenylyl-imidodiphosphate. Human UPF3b binds with the C-terminal domain stretched over a composite...
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PMID: 20479275
PDF is available here.
PDF is available here.
Abstract
Mutations in the neurokinin B pathway are relatively common as causes of hypogonadism. Although the neurokinin B pathway appears essential during early sexual development, its importance in sustaining the integrity of the hypothalamic-pituitary-gonadal axis appears attenuated over time....
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PMID: 20332248
PDF is available here.
PDF is available here.
Abstract
We studied 10 patients from 8 families with BSS. Analysis of germline mutations of the CYLD gene was performed using either peripheral blood or nontumorous tissue. In addition, 19 formalin-fixed paraffin-embedded tumor samples were analyzed for somatic mutations, including loss of heterozygosity stu...
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PMID: 20502185
PDF is available here.
PDF is available here.
Abstract
Our report describes the only nonsense mutation in the HAX1 gene present in SCN patients of Arab origin....
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PMID: 20182745
PDF is available here.
PDF is available here.
Abstract
A remarkable clinical finding in the affected family is early macular atrophy with concentric spared areas. The authors propose that the hallmark of PROM1 truncating mutations is early and severe progressive degeneration of both rods and cones and highlight this gene as a candidate of choice to prio...
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PMID: 20042663
PDF is available here.
PDF is available here.
Abstract
These data indicate that constitutional disruption of HACE1 likely predisposes to Wilms tumour. However, HACE1 mutations are rare and therefore can only make a small contribution to Wilms tumour incidence. More broadly, this study demonstrates the utility of genome-wide paired-end sequencing in the...
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PMID: 19948536
PDF is available here.
PDF is available here.
Klinische Paediatrie (222)3 2010
Abstract
Patients' platelets showed severe pathological agglutination/aggregation. Flow cytometry analysis demonstrated absence of platelet delta-granule secretion. Three different mutations in the HPS1 gene were found in the two families. Two mutations, p.H119delC and p.Q397delC identified in the Russian si...
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PMID: 20514622
PDF is available here.
PDF is available here.
Abstract
The clinical data of 24 children with Wiskott-Aldrich syndrome (WAS) from 23 unrelated Chinese families were reviewed in the present study. WAS protein (WASP) expression in peripheral blood mononuclear cells was examined by flow cytometry (FCM); WASP gene was amplified by PCR and directly sequenced...
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PMID: 20546529
PDF is available here.
PDF is available here.
EMBO Reports (11)5 2010
Abstract
We provide evidence that human Argonaute 2 targets cap-binding protein (CBP)80/20-bound mRNAs and exon junction complex-bound mRNAs and inhibits nonsense-mediated mRNA decay (NMD), which is restricted tightly to CBP80/20-bound mRNAs. Furthermore, microarray analyses reveal that a subset of cellular...
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PMID: 20395958
PDF is available here.
PDF is available here.
Abstract
Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is essential in the process of intracellular pa...
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PMID: 20167518
PDF is available here.
PDF is available here.
Abstract
CYP2E1 is one of a superfamily of enzymes that play a central role in activating and detoxifying many xenobiotics and endogenous compounds thought to be involved in the development of several human diseases. Among other factors, individual susceptibility to developing these pathologies relies on gen...
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PMID: 20100563
PDF is available here.
PDF is available here.
Journal of Biochemistry (147)4 2010
Abstract
We demonstrated that the skin permeability of gentamicin increased with the use of a thioglycolate-based depilatory agent. After transdermal administration, the readthrough activity in skeletal muscle, as determined using a lacZ/luc reporter system, was found to be equivalent to systemic administrat...
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PMID: 19910311
PDF is available here.
PDF is available here.
Abstract
We performed a detailed documentation of the pedigree of an LFS family with a comprehensive analysis of genotype-phenotype correlations. We sequenced the TP53 gene and verified that the proband carries a germline nonsense mutation in codon 146 in one allele, the TP53Arg72Pro polymorphism in the seco...
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PMID: 20198344
PDF is available here.
PDF is available here.
Abstract
There were gene micromutations in 9 families with a micromutation detection rate of 64.3% (9/14), including 6 frameshift mutations (66.7%), 1 nonsense mutation (11.1%) and 2 splicing mutations (22.2%). Large fragment deletions were detected by MLPA in 2 families. The total mutation detection rate of...
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PMID: 20333795
PDF is available here.
PDF is available here.
Abstract
We tested the effect of mTOR inhibition with rapamycin on tumor formation in APC(Min/+) mice and evaluated ion channel regulation. We found that continuous long-term rapamycin treatment of APC(Min/+) mice dramatically inhibits intestinal neoplasia. Moreover, although untreated APC(Min/+) mice lose w...
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PMID: 19966863
PDF is available here.
PDF is available here.
Abstract
These results show that coordinated expression of multiple biosynthetic genes is involved in anthocyanin accumulation in Chinese bayberry fruit, and this is regulated by MrMYB1....
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PMID: 20183921
PDF is available here.
PDF is available here.
médecine/sciences (26)3 2010
Abstract
Anticancer Research (30)3 2010
Abstract
The present study determined mutations of phosphatase and tensin homolog (PTEN) gene in patients suffering from high-grade gliomas (WHO grades III and IV) and further investigated the mutations in correlation to patients' histopathological classification and short-term survival. Total RNA and genomi...
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PMID: 20393024
PDF is available here.
PDF is available here.
Abstract
Nonsense-mediated RNA decay (NMD) has long been viewed as an important constitutive mechanism to rapidly eliminate mutated mRNAs. More recently, it has been appreciated that NMD also degrades multiple nonmutated transcripts and that NMD can be regulated by wide variety of cellular st...
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PMID: 20179151
PDF is available here.
PDF is available here.
Abstract
We report the identification and functional analysis of a novel nonsense mutation in FGA exon 5: c.718C>T (CAG>TAG) p.Q240X (Q221X in the mature chain lacking the signal peptide), accounting for fibrinogen deficiency in six Egyptian patients. Expression of the mutant Aalpha-chain cDNA in combination...
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PMID: 20051841
PDF is available here.
PDF is available here.
Thrombosis and Haemostasis (103)3 2010
Abstract
Abstract
We report a novel GNAS1 mutation in a patient with POH. The patient is a 6-year-old boy, whose short stature came to medical attention in infancy. He was diagnosed with growth hormone (GH) deficiency, and subsequent GH therapy resulted in catch-up growth. He developed soft tissue masses in the right...
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PMID: 20480732
PDF is available here.
PDF is available here.
Abstract
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
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PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
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PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
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PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
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PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
|
PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
|
PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
|
PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
|
PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
|
PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
|
PMID: 20002452
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Abstract
We present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The...
|
PMID: 20002452
PDF is available here.
PDF is available here.