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Frameshift Mutation (0):
Recent article
Frameshift Mutation
Abstract
We detected a frameshift mutation in SMPX in one of the patients. Segregation analysis of both mutations in the families in whom they were found revealed that the mutations cosegregated with hearing impairment. Although we show that SMPX is expressed in many different organs, including the human inn...
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PMID: 21549342
PDF is available here.
PDF is available here.
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Abstract
We identified two heterozygous frameshift mutations in the perilipin gene (PLIN1) in three families with partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes. Subcutaneous fat from the patients was characterized by smaller-than-normal adipocytes, macrophage infiltration, and fi...
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PMID: 21345103
PDF is available here.
PDF is available here.
Cytometry Part B (80)1 2011
Abstract
We previously generated an antihuman SAP monoclonal antibody (KST-3) for a flow cytometric assay and described the activation of T cells to be necessary for the flow cytometric assessment of the SAP expression using an FITC-conjugated secondary antibody.
Between 2005 and 2008, we rec...
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PMID: 20632414
PDF is available here.
PDF is available here.
Abstract
We demonstrated that the +1 frameshifting was increased in the mutant strain. Further characterizations revealed involvement of the Imp3 protein in DNA repair and telomere length control, pointing to a functional relationship between both pathways and ribosome biogenesis....
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PMID: 21559332
PDF is available here.
PDF is available here.
Abstract
We employed a series of frameshift reporters to measure mutagenesis associated with BIR in Saccharomyces cerevisiae. We demonstrate that BIR DNA synthesis is intrinsically inaccurate over the entire path of the replication fork, as the rate of frameshift mutagenesis during BIR is up to 2,800-fold hi...
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PMID: 21347245
PDF is available here.
PDF is available here.
New England Journal of Medicine (363)15 2010
Abstract
We report on delivery of a functional dystrophin transgene to skeletal muscle in six patients with Duchenne's muscular dystrophy. Dystrophin-specific T cells were detected after treatment, providing evidence of transgene expression even when the functional protein was not visualized in skeletal musc...
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PMID: 20925545
PDF is available here.
PDF is available here.
Andrologia (42)5 2010
Abstract
We describe the clinical, hormonal and molecular characteristics of a young man from Ecuador who was diagnosed as having CHARGE syndrome at an adult age. The patient showed several phenotypic features of the syndrome, associated with a prepubertal state and cryptorchidism; hypogonadotrophic hypogona...
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PMID: 20860631
PDF is available here.
PDF is available here.
New England Journal of Medicine (363)14 2010
Abstract
We studied concordant and discordant monozygous twins with de novo mutations in the sodium channel α1 subunit gene (SCN1A) causing Dravet's syndrome, a severe epileptic encephalopathy. On the basis of our findings and the literature on mosaic cases, we conclude that de novo mutations in SCN1A may o...
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PMID: 20879882
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.
Thrombosis and Haemostasis (104)2 2010
Abstract
We found a novel hypofibrinogenemia designated as Matsumoto VII (M-VII), which is caused by a heterozygous nucleotide deletion at position g.7651 in FGG and a subsequent frameshift mutation in codon 387 of the gamma-chain. This frameshift results in 25 amino acid substitutions, late termination of tr...
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PMID: 20589319
PDF is available here.
PDF is available here.
Abstract
We investigated CLOCK as a possible target of somatic mutations in microsatellite unstable colorectal cancers. Combining microarray gene expression data and public gene sequence information, we identified CLOCK as 1 of 790 putative novel microsatellite instability (MSI) target genes. A total of 101...
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PMID: 20551151
PDF is available here.
PDF is available here.
Biochimica et Biophysica Acta (1804)7 2010
Abstract
We demonstrate that PQBP-1 binds to U5-15kD via a continuous 23-residue segment within its C-terminal domain. Intriguingly, this segment is lost in the frameshift mutants of PQBP-1 associated with X-linked mental retardation. These findings suggest that the frameshift mutations in the PQBP-1 gene le...
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PMID: 20307692
PDF is available here.
PDF is available here.
Neurogenetics (11)3 2010
Abstract
We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were...
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PMID: 19921286
PDF is available here.
PDF is available here.
Neurogenetics (11)3 2010
Abstract
We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were...
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PMID: 19921286
PDF is available here.
PDF is available here.
Neurogenetics (11)3 2010
Abstract
We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were...
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PMID: 19921286
PDF is available here.
PDF is available here.
Neurogenetics (11)3 2010
Abstract
We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were...
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PMID: 19921286
PDF is available here.
PDF is available here.
Gene Therapy (17)7 2010
Abstract
We inserted in a plasmid coding for the dog micro-dystrophin sequences containing a MGN target. The number of base pairs in these inserted sequences changed the reading frame. One of these modified target micro-dystrophin plasmids and an appropriate MGN were then transfected in 293FT cells. The MGN...
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PMID: 20393509
PDF is available here.
PDF is available here.
Abstract
We describe the chimeric gene Quetzalcoatl (Qtzl; CG31864), which formed in the recent past and swept to fixation in D. melanogaster. Qtzl arose through a duplication on chromosome 2L that united a portion of the mitochondrially targeted peptide CG12264 with a segment of the polycomb gene escl. The...
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PMID: 20534482
PDF is available here.
PDF is available here.
Veterinary Microbiology (143)1 2010
Abstract
We introduced the BICP0-5 frameshift into the BoHV-1 genome cloned as a bacterial artificial chromosome (BoHV-1 BAC) using the Red recombination system with galK selection and counterselection. Transfection of MDBK cells with the resulting BAC produced recombinant virus that replicated like wild typ...
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PMID: 20211531
PDF is available here.
PDF is available here.
Abstract
We performed a mutation analysis of the POU4F3 gene in 42 unrelated Koreans with autosomal dominant non-syndromic hearing loss, identifying a novel 14-bp deletion mutation in exon 2 (c.662del14) in one patient. Audiometric examination revealed severe bilateral sensorineural hearing loss in this pati...
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PMID: 20434433
PDF is available here.
PDF is available here.
Abstract
We were able to prove that the etiology of the hereditary multiple pituitary deficiencies (MPHD) causing the dwarfism is due to a PROP-1 gene mutation, a pituitary transcription factor. During visits in 1988, 1990 and 2007 data on the life span of these patients not treated by growth and sex hormone...
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PMID: 20679996
PDF is available here.
PDF is available here.
Journal of Physiology (588)Pt 11 2010
Abstract
Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEF...
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PMID: 20308251
PDF is available here.
PDF is available here.
Abstract
Mutation Research (688)1-2 2010
Abstract
We used Saccharomyces cerevisiae cells, arrested by starvation for the essential amino acid lysine, to study the occurrence of reactive oxygen species (ROS), abasic (AP) sites and double strand breaks (DSBs). Furthermore, we analyzed the mutation frequencies in resting wild type cells and in cells d...
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PMID: 20223252
PDF is available here.
PDF is available here.
Clinical Cancer Research (16)16 2010
Abstract
This study was conducted to identify novel genes with importance to the biology of adult acute myelogenous leukemia (AML).
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PMID: 20505189
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.
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.
Klinische Paediatrie (222)3 2010
Abstract
Analyses of patient's platelets using flow cytometry and immunoblotting showed absence of GPIIb protein and reduced amount of GPIIIa. Using restriction fragment length polymorphism heterozygosity for the deletion could be identified in the parents and in two siblings. Expression studies in mammalian...
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PMID: 20514618
PDF is available here.
PDF is available here.
Plant Physiology (152)4 2010
Abstract
We took map-based cloning and candidate gene approaches using integrated genetic and physical maps. A DNA marker tightly linked to flesh color colocalized on a contig of the physical map with a cDNA probe of the tomato (Solanum lycopersicum) chromoplast-specific lycopene beta-cyclase, CYC-b. Candida...
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PMID: 20181753
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.
Annales d'Endocrinologie (71)2 2010
Abstract
We report the clinical and genetic findings in a 23-year-old woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT). The patient had a family history of primary hyperparathyroidism (PHPT) and uterine fibroma in her mother. The patient presented muscle weakness. The diagnosis of PHPT was confirme...
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PMID: 19942209
PDF is available here.
PDF is available here.
Abstract
Abstract
We identified a causative homozygous 11 bp deletion, c.42_52del, in the TPRN gene in all seven affected individuals. The deletion is located in exon 1 and results in a frameshift and premature protein truncation (p.Gly15AlafsX150). Interestingly, the deleted sequence is part of a repetitive and CG-r...
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PMID: 20170898
PDF is available here.
PDF is available here.
Abstract
We report the molecular investigation of four affected members with BPES syndrome in a Tunisian consanguineous family. To identify the causative mutation, we performed a direct sequencing of the FOXL2 gene. The sequence analysis of the coding exon revealed a novel frameshift mutation g.1113 dup C, c...
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PMID: 19929410
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
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PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
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PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
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PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
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PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
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PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
|
PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
|
PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
|
PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
|
PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
|
PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
|
PMID: 20002450
PDF is available here.
PDF is available here.
Clinical Genetics (77)2 2010
Abstract
Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol....
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PMID: 20002450
PDF is available here.
PDF is available here.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (27)1 2010
Abstract
A mutation (L539fs/47) and a SNP (L564L) were found in exon 7 of the KCNH2 gene of the proband. The mutation was from the father. CONCLUSION: A novel mutation of L539fs/47 in the KCNH2 gene was identified in the LQTS family, which might be the disease-causing mutation for the family....
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PMID: 20140874
PDF is available here.
PDF is available here.
Abstract
We analysed MSI-High colorectal cancer cell lines for examples of naturally expressed mutant proteins arising from frameshift mutations in coding microsatellites (cMS) by immunoprecipitation and Western Blot experiments. Detected mutant protein bands from NMD-resistant transcripts were further valid...
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PMID: 21209843
PDF is available here.
PDF is available here.
Abstract
We have mapped the causative genetic defect to a 3.25 megabase candidate region on chromosome 5q13.3-q14.1. A maximum LOD score of 4.1 (Theta = 0) was obtained at marker D5S1962. Here we show that ADSD is caused by a complex frameshift mutation (c.94G>C+c.95delT) in the phosphodiesterase 8B (PDE8B)...
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PMID: 20085714
PDF is available here.
PDF is available here.
Abstract
Two boys of 13.3 and 10.6 years, with pubertal stages 2 and 1, had mild short stature (-3.2 and -2.8 SDS, respectively) and a biochemical profile suggestive of growth hormone resistance. No defects were identified in the GHR. Patient 1 was homozygous for the IGFALS missense mutation P73L. Patient 2...
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PMID: 20389102
PDF is available here.
PDF is available here.
Clinical Neuropathology (29)2 2010
Abstract
We present a comprehensive report of two siblings with hereditary inclusion body myopathy (HIBM). The clinical features and histological characteristics of the muscle biopsies showed the typical pattern of predominantly distal vacuolar myopathy with quadriceps sparing. This was confirmed by muscle M...
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PMID: 20175955
PDF is available here.
PDF is available here.
Abstract
We present here, the clinical and radiographic details along with, results of mutational analysis of the CA2 gene in an individual clinically diagnosed with renal tubular acidosis, osteopetrosis and mental retardation and his family members to establish genotype-phenotype correlation. A novel homozy...
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PMID: 20935402
PDF is available here.
PDF is available here.
BMC Microbiology (10) 2010
Abstract
We showed that ectoines can be also accumulated upon transport from the external medium, and that they can be used as carbon sources at optimal, but not at low salinity. This was related to an insufficient ectoine(s) transport under these conditions.
A C. salexigens Tn1732-induced mutant (CHR95) sho...
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PMID: 20942908
PDF is available here.
PDF is available here.
BMC Medical Genetics (11) 2010
Abstract
We present data on two cases of Smith-Magenis syndrome with mutation of RAI1. Both cases are phenotypically consistent with SMS and RAI1 mutation but also have other anomalies not previously reported in SMS, including spontaneous pneumothoraces. These cases also illustrate variability in the SMS phe...
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PMID: 20932317
PDF is available here.
PDF is available here.
BMC Medical Genetics (11) 2010
Abstract
We performed G- and R-banding cytogenetic analysis of the patient and her family members including her father. We also performed molecular genetic analysis of SRY gene. Cytogenetic analysis in the patient (Turner Syndrome) revealed the mosaic karyotype as 45, X/46, XY (79%/21% respectively) while he...
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PMID: 20849656
PDF is available here.
PDF is available here.
Abstract
We provide conclusive data that the (-1) frame of U79260(FTO) encodes an HLA-A0201-restricted cytotoxic T cell epitope (FSP11; TLSPGWSAV). T cells specific for FSP11 efficiently recognized HLA-A0201((pos)) tumor cells harboring the mutated reading frame. Considering the exceptionally high mutation r...
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PMID: 20339516
PDF is available here.
PDF is available here.
Abstract
We describe for the first time two new mutations in GJB2: the missense mutation c.29 T>C (p.Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequenc...
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PMID: 19887791
PDF is available here.
PDF is available here.
Abstract
Abstract
We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched...
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PMID: 20018682
PDF is available here.
PDF is available here.
Abstract
We encountered three siblings of an inbred family who have PAM. We examined the family of the proband who was admitted with dyspnea on exertion and cough, and eventually was diagnosed with PAM. Genetic analysis revealed that both parents (a consanguineous marriage) of the proband were carriers with...
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PMID: 20046000
PDF is available here.
PDF is available here.