15 results match your criteria Pathogenetics [Journal]

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A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

Pathogenetics 2010 Feb 2;3(1). Epub 2010 Feb 2.

Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

Background: Mental retardation is a genetically heterogeneous disorder, as more than 90 genes for this disorder has been found on the X chromosome alone. In addition the majority of patients are non-syndromic in that they do not present with clinically recognisable features. This makes it difficult to determine the molecular cause of this disorder on the basis of the phenotype alone. Read More

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http://dx.doi.org/10.1186/1755-8417-3-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830949PMC
February 2010
18 Reads

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.

Pathogenetics 2010 Jan 5;3. Epub 2010 Jan 5.

Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.

Background: Aristaless related homeobox (ARX) is a paired-type homeobox gene. ARX function is frequently affected by naturally occurring mutations. Nonsense mutations, polyalanine tract expansions and missense mutations in ARX cause a range of intellectual disability and epilepsy phenotypes with or without additional features including hand dystonia, lissencephaly, autism or dysarthria. Read More

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http://dx.doi.org/10.1186/1755-8417-3-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2819251PMC
January 2010
13 Reads

microRNAs and genetic diseases.

Pathogenetics 2009 Nov 4;2(1). Epub 2009 Nov 4.

Telethon Institute of Genetics and Medicine (TIGEM), 80131 Naples, Italy.

microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect base pairing, to target sites in messenger RNAs (usually in 3' untranslated regions) thereby either reducing translational efficiency or determining transcript degradation. Considering that each miRNA can regulate, on average, the expression of approximately several hundred target genes, the miRNA apparatus can participate in the control of the gene expression of a large quota of mammalian transcriptomes and proteomes. Read More

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http://dx.doi.org/10.1186/1755-8417-2-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778645PMC
November 2009
3 Reads

Emerging evidence of a link between the polycystins and the mTOR pathways.

Pathogenetics 2009 Oct 28;2(1). Epub 2009 Oct 28.

Dulbecco Telethon Institute (DTI) at Dibit, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease characterized by the formation of renal cysts. This disease can be caused by mutations in two genes, PKD1 and PKD2, which encode polycystin-1 (PC-1) and -2 (PC-2), respectively.PC-1 is a large plasma membrane receptor involved in the regulation of several biological functions and signaling pathways, and PC-2 is a calcium channel of the TRP family. Read More

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http://pathogeneticsjournal.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/1755-8417-2-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2781793PMC
October 2009
3 Reads

Regulation of TGF-beta signalling by Fbxo11, the gene mutated in the Jeff otitis media mouse mutant.

Pathogenetics 2009 Jul 6;2(1). Epub 2009 Jul 6.

MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK.

Background: Jeff is a dominant mouse mutant displaying chronic otitis media. The gene underlying Jeff is Fbxo11, a member of the large F-box family, which are specificity factors for the SCF E3 ubiquitin ligase complex. Jeff homozygotes die shortly after birth displaying a number of developmental abnormalities including cleft palate and eyes open at birth. Read More

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http://dx.doi.org/10.1186/1755-8417-2-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714483PMC
July 2009
10 Reads

Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI.

Pathogenetics 2009 Jun 16;2(1). Epub 2009 Jun 16.

Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

Background: Lysosomal storage diseases are characterized by intracellular accumulation of metabolites within lysosomes. Recent evidence suggests that lysosomal storage impairs autophagy resulting in accumulation of polyubiquitinated proteins and dysfunctional mitochondria, ultimately leading to apoptosis. We studied the relationship between lysosome storage and impairment of different intracellular pathways and organelle function in mucopolysaccharidosis VI, which is characterized by accumulation of dermatan sulfate and signs of visceral and skeletal but not cerebral involvement. Read More

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http://dx.doi.org/10.1186/1755-8417-2-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708151PMC
June 2009
2 Reads

The dynamic cilium in human diseases.

Pathogenetics 2009 May 13;2(1). Epub 2009 May 13.

Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

Cilia are specialized organelles protruding from the cell surface of almost all mammalian cells. They consist of a basal body, composed of two centrioles, and a protruding body, named the axoneme. Although the basic structure of all cilia is the same, numerous differences emerge in different cell types, suggesting diverse functions. Read More

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http://pathogeneticsjournal.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/1755-8417-2-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694804PMC
May 2009
2 Reads

Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.

Pathogenetics 2009 Apr 28;2(1). Epub 2009 Apr 28.

National Institute for Health and Welfare and FIMM, Institute for Molecular Medicine Finland, Helsinki, Finland.

Background: Hydrolethalus syndrome (HLS) is a severe fetal malformation syndrome characterized by multiple developmental anomalies, including central nervous system (CNS) malformation such as hydrocephaly and absent midline structures of the brain, micrognathia, defective lobation of the lungs and polydactyly. Microscopically, immature cerebral cortex, abnormalities in radial glial cells and hypothalamic hamartoma are among key findings in the CNS of HLS fetuses. HLS is caused by a substitution of aspartic acid by glycine in the HYLS1 protein, whose function was previously unknown. Read More

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http://pathogeneticsjournal.biomedcentral.com/articles/10.11
Publisher Site
http://dx.doi.org/10.1186/1755-8417-2-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686686PMC
April 2009
9 Reads

Pancreatic islet expression profiling in diabetes-prone C57BLKS/J mice reveals transcriptional differences contributed by DBA loci, including Plagl1 and Nnt.

Pathogenetics 2009 Jan 22;2(1). Epub 2009 Jan 22.

Department of Computational Biology, Amgen Inc,, One Amgen Center Dr, Thousand Oaks, CA 91320, USA.

Background: C57BLKS/J (BLKS) mice are susceptible to islet exhaustion in insulin-resistant states as compared with C57BL6/J (B6) mice, as observed by the presence of the leptin receptor (Lepr) allele, Leprdb/db. Furthermore, DBA2/J (DBA) mice are also susceptible to beta-cell failure and share 25% of their genome with BLKS; thus the DBA genome may contribute to beta-cell dysfunction in BLKS mice.

Results: Here we show that BLKS mice exhibit elevated insulin secretion, as evidenced by improved glucose tolerance and increased islet insulin secretion compared with B6 mice, and describe interstrain transcriptional differences in glucose response. Read More

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http://dx.doi.org/10.1186/1755-8417-2-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642818PMC
January 2009
9 Reads

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.

Pathogenetics 2008 Dec 1;1(1). Epub 2008 Dec 1.

Telethon Institute of Genetics and Medicine, Via Castellino, 80131 Naples, Italy.

Background: Pompe disease (PD) is a metabolic myopathy caused by alpha-glucosidase (GAA) deficiency and characterized by generalized glycogen storage. Heterogeneous GAA gene mutations result in wide phenotypic variability, ranging from the severe classic infantile presentation to the milder intermediate and late-onset forms. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA), the only treatment available for PD, intriguingly shows variable efficacy in different PD patients. Read More

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http://dx.doi.org/10.1186/1755-8417-1-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635360PMC
December 2008
14 Reads

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines.

Pathogenetics 2008 Dec 1;1(1). Epub 2008 Dec 1.

Laboratory of Molecular Genetics, G, Gaslini Institute, Genova, Italy.

Background: Heterozygous mutations of MYH9, encoding the Non-Muscular Myosin Heavy Chain-IIA (NMMHC-IIA), cause a complex disorder named MYH9-related disease, characterized by a combination of different phenotypic features. At birth, patients present platelet macrocytosis, thrombocytopenia and leukocyte inclusions containing NMMHC-IIA. Moreover, later in life some of them develop the additional features of sensorineural hearing loss, cataracts and/or glomerulonephritis that sometimes leads to end stage renal failure. Read More

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http://dx.doi.org/10.1186/1755-8417-1-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633265PMC
December 2008
6 Reads

Mechanisms for human genomic rearrangements.

Pathogenetics 2008 Nov 3;1(1). Epub 2008 Nov 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such changes are usually visible microscopically by chromosome studies. Human diseases that result from genomic rearrangements have been called genomic disorders. Read More

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http://dx.doi.org/10.1186/1755-8417-1-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2583991PMC
November 2008
34 Reads

High-efficiency Rosa26 knock-in vector construction for Cre-regulated overexpression and RNAi.

Pathogenetics 2008 Nov 3;1(1). Epub 2008 Nov 3.

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.

Introduction: Rosa26 is a genomic mouse locus commonly used to knock-in cDNA constructs for ubiquitous or conditional gene expression in transgenic mice. However, the vectors generally used to generate Rosa26 knock-in constructs show instability problems, which have a severe impact on the efficiency of the system.

Results: We have optimized the cloning procedure to generate targeting vectors for Cre-regulated expression of constructs within several days with minimal hands-on time, thereby enabling high-throughput approaches. Read More

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http://dx.doi.org/10.1186/1755-8417-1-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2583990PMC
November 2008
5 Reads

Smad4 haploinsufficiency: a matter of dosage.

Pathogenetics 2008 Nov 3;1(1). Epub 2008 Nov 3.

Department of Pathology, Josephine Nefkens Institute, Erasmus MC, Rotterdam, The Netherlands.

Background: The inactivation of tumor suppressor genes follows Alfred Knudson's 'two-hit' model: both alleles need to be inactivated by independent mutation events to trigger tumor formation. However, in a minority of tumor suppressor genes a single hit is sufficient to initiate tumorigenesis notwithstanding the presence of the wild-type allele, a condition known as haploinsufficiency. The SMAD4 gene is an intracellular mediator of the TGF-beta and BMP signal transduction pathways and a tumor suppressor involved in pancreatic and colorectal tumorigenesis. Read More

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http://dx.doi.org/10.1186/1755-8417-1-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2580039PMC
November 2008
14 Reads

Welcome to PathoGenetics.

Pathogenetics 2008 Nov 3;1(1). Epub 2008 Nov 3.

Telethon Institute of Genetics and Medicine, Napoli, Italy.

Disease gene identification has made enormous strides in the past twenty years through functional, positional and candidate gene approaches, and more recently by the exploitation of genome-wide strategies. However, although pathogenic mutations in over 2000 genes have been identified as causative of human diseases, much less is known about the relationship between the molecular defects and mechanisms that lead to disease pathology and symptoms. Recent advances in diverse fields such as genomics, proteomics, cell biology, as well as studies on transgenic animals have greatly accelerated our understanding of the biochemical and cellular basis of many diseases but much still remains to be discovered. Read More

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http://dx.doi.org/10.1186/1755-8417-1-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2580038PMC
November 2008
42 Reads
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