Affiliation: University of California
- Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndromeVirginia E Kimonis
Division of Genetics and Metabolism, University of California, Irvine, Irvine, California, USA
Genet Med 15:79-83. 2013..Current diagnostic criteria are suboptimal when applied to pediatric populations, as most common symptoms often do not begin to appear until teenage years...
- Mild fumarase deficiency and a trial of low protein dietV E Kimonis
Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, CA, USA
Mol Genet Metab 107:241-2. 2012..She has two novel mutations of the fumarase gene [c.521C>G (p.P174R) and c.908T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria...
- VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorderVirginia E Kimonis
Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, 101 The City Drive, ZOT 4482, Orange, CA 92868, USA
Biochim Biophys Acta 1782:744-8. 2008..Inclusions seen in the muscle, brain and heart in VCP disease contain ubiquitin, beta amyloid and TDP-43, also seen in other neurodegenerative disorders thus implicating common pathways in their pathogenesis...
- Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementiaVirginia E Kimonis
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 146:745-57. 2008..The presence of PDB in 28 (57%) individuals suggests that measuring serum alkaline phosphatase (ALP) activity may be a useful screen for IBMPFD in patients with myopathy...
- Genetics of craniosynostosisVirginia Kimonis
Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, CA 92868, USA
Semin Pediatr Neurol 14:150-61. 2007..The molecular basis of many types of syndromic craniosynostosis is known, and diagnostic testing strategies will often lead to a specific diagnosis...
- Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinGiles D J Watts
Division of Genetics, Children s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 36:377-81. 2004..Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway...
- Genetics of hearing loss: where are we standing now?Hossein Mahboubi
Department of Otolaryngology Head and Neck Surgery, University of California, Irvine, 101 The City Drive South, Bldg 56, Suite 500, Rt 81, Orange, CA 92868, USA
Eur Arch Otorhinolaryngol 269:1733-45. 2012..More than 300 syndromes and 40 genes have been identified to result in different levels of HL. Although several diagnostic or screening tests have been developed, yet there are controversies around their use...
- APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)Sarju G Mehta
Children s Hospital Clinical Genetics and Metabolism, Boston, Massachusetts, and Department of Neurology and Sanders Brown Center on Aging, University of Kentucky, Lexington, Kentucky, USA
Genet Med 9:9-13. 2007..Modifier genes could account for decreased frontotemporal dementia penetrance. In this study apolipoprotein-E (APOE) was evaluated for this role in IBMPFD families based on its known modifier effect in Alzheimer's disease...
- Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genesGiles D J Watts
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 5, Boston, MA 02115, USA
Neuromuscul Disord 13:559-67. 2003..Expression studies indicate that GNE has a tissue-specific splice pattern, with four splice variants. Mutation analysis in three other candidate genes (beta-tropomyosin, NDUFB6 and SMU1) did not identify any mutations...
- Atypical cases of Angelman syndromeAmy Lawson-Yuen
Division of Genetics and Metabolism, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 140:2361-4. 2006....
- ALX4 gain-of-function mutations in nonsyndromic craniosynostosisGarima Yagnik
Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, CA 95817, USA
Hum Mutat 33:1626-9. 2012..Using dual-luciferase assay we show that two of these variants (V7F and K211E) confer a significant gain-of-function effect on ALX4. Our results suggest that ALX4 variants may have an impact on the genetic etiology of NSC...
- Krabbe disease: severe neonatal presentation with a family history of multiple sclerosisInderneel Sahai
Division of Genetics and Metabolism, Harvard Medical School and Children s Hospital, Boston, MA, USA
J Child Neurol 20:826-8. 2005....
- Nutritional phases in Prader-Willi syndromeJennifer L Miller
Department of Pediatrics, College of Medicine, University of Florida, Gainesville, 32610 0296, USA
Am J Med Genet A 155:1040-9. 2011..Counseling parents of newly diagnosed infants with PWS as to what to expect with regard to these nutritional phases may help prevent or slow the early-onset of obesity in this syndrome...
- Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathySarju G Mehta
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 140:322-30. 2006..Elucidation of the novel molecular basis of this disorder may provide valuable links between bone, collagen and muscle, and targeted therapeutic options...
- Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblastsJouni Vesa
Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, CA 92868, USA
Neuromuscul Disord 19:766-72. 2009....
- Heterogeneity in familial dominant Paget disease of bone and muscular dystrophyBrook Waggoner
Division of Genetics and Metabolism, Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois, USA
Am J Med Genet 108:187-91. 2002..1-q12, thus providing evidence for genetic heterogeneity among families with the unique combination of muscular dystrophy and Paget disease of bone...
- Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementiaVirginia E Kimonis
Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Alzheimer Dis Assoc Disord 19:S44-7. 2005..Identification of VCP as the gene causing IBMPFD has important implications for understanding the pathogenesis of neurodegenerative disorders...
- Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositisSteven A Greenberg
Department of Neurology, Division of Neuromuscular Disease, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA 02115, USA
Muscle Nerve 36:447-54. 2007..These findings suggest that impairment in the nuclear function of VCP might contribute to the muscle pathology occurring in IBMPFD...
- Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)Weihua Zeng
Department of Biological Chemistry, School of Medicine, University of California, Irvine, California, United States of America
PLoS Genet 5:e1000559. 2009..Based on these results, we propose a new model in which the epigenetic change initiated at 4q D4Z4 spreads its effect to other genomic regions, which compromises muscle-specific gene regulation leading to FSHD pathogenesis...
- Kousseff syndrome caused by deletion of chromosome 22q11-13Shawnia Forrester
Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois 62794 9658, USA
Am J Med Genet 112:338-42. 2002..We suggest that individuals with neural tube defects associated with other anomalies such as congenital heart defects or cleft palate be evaluated for 22q deletions...
- Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndromeGiles D J Watts
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 10, Boston, MA, 02115, USA
Hum Genet 118:508-14. 2005..This region also localizes diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH). Identification of the disease gene will be necessary to understand the pathogenesis of this complex disorder...
- Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of boneGavin J A Lucas
Department of Medicine and Therapeutics, University of Aberdeen, UK
Bone 38:280-5. 2006..Genetic variation in VCP does not appear to be a common cause of familial or sporadic PDB in the absence of myopathy and dementia...
- TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutationsManuela Neumann
Center for Neuropathology and Prion Research, Ludwig Maximilians University, Munich, Germany
J Neuropathol Exp Neurol 66:152-7. 2007..TDP-43 is a common pathologic substrate linking a variety of distinct patterns of FTLD-U pathology caused by different genetic alterations...
- Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutationsMark S Forman
Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
J Neuropathol Exp Neurol 65:571-81. 2006..Our findings are consistent with the hypothesis that the pathology associated with VCP gene mutations is the result of impairment of ubiquitin-based degradation pathways...
- Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23Alexey Shatunov
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 9404, USA
Brain 129:2318-31. 2006..Our findings provide evidence for linkage to a novel susceptibility locus on chromosome 6p23. Analysis of additional ET-affected families is needed to confirm linkage and identify the underlying gene...
- GENE CAUSING PAGET & LIMB-GIRDLE MUSCULAR DYSTROPHYVirginia Kimonis; Fiscal Year: 2003..Delineation of the genetic component responsible for the LGMD/PDB phenotype should promise similar insight and facilitate in the design of novel treatment protocols for the two disorders. ..
- Characterization of Familial Myopathy & Paget DiseaseVirginia Kimonis; Fiscal Year: 2005..Elucidation of the genetic defect will help us understand the pathogenesis of this multifaceted disorder and hopefully result in specific therapy. ..
- Genetic basis of myopathy with Paget disease of boneVirginia Kimonis; Fiscal Year: 2007..e. effect on ATPase activity, protein-protein interactions, and hexamer formation). Study the VCP specific pathways in C2C12 cell lines (stably transfected wt and R155H VCP) during differentiation and under stress conditions...