A5075377064- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Metabolism and Genetic Disorders
- Hedgehog Signaling Pathway Studies
- Renal Diseases and Glomerulopathies
- Genetic and rare skin diseases.
- Blood disorders and treatments
- Mitochondrial Function and Pathology
- Biomedical Research and Pathophysiology
- Cancer and Skin Lesions
- Kidney Stones and Urolithiasis Treatments
- Genetic Syndromes and Imprinting
- Thyroid Disorders and Treatments
- Neurological diseases and metabolism
- Erythrocyte Function and Pathophysiology
- Immune Cell Function and Interaction
- Cardiomyopathy and Myosin Studies
- Epigenetics and DNA Methylation
- Fetal and Pediatric Neurological Disorders
- Liver Disease Diagnosis and Treatment
- Neurofibromatosis and Schwannoma Cases
- Diabetes and associated disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Epilepsy research and treatment
- Skin and Cellular Biology Research
Bristol-Myers Squibb (United States)
2023-2024
University of Iowa
2018-2021
University of Iowa Health Care
2021
The University of Texas Southwestern Medical Center
2009-2016
Hacettepe University
2012
Gazi University
2012
University of Michigan–Ann Arbor
2004-2010
Ann Arbor Center for Independent Living
2010
Southwestern Medical Center
2010
Michigan United
2009
Centrosome- and cilia-associated proteins play crucial roles in establishing polarity regulating intracellular transport post-mitotic cells. Using genetic mapping positional candidate strategy, we have identified an in-frame deletion a novel centrosomal protein CEP290 (also called NPHP6), leading to early-onset retinal degeneration newly mouse mutant, rd16. We demonstrate that localizes primarily centrosomes of dividing cells the connecting cilium photoreceptors. show that, retina,...
The identification of recessive disease-causing genes by homozygosity mapping is often restricted lack suitable consanguineous families. To overcome these limitations, we apply to single affected individuals from outbred populations. In 72 54 kindred ascertained worldwide with known homozygous mutations in 13 different disease genes, performed total genome using 250,000 SNP arrays. Likelihood ratio Z-scores (ZLR) were plotted across the detect ZLR peaks that reflect segments descent, which...
Nephronophthisis is a recessive cystic renal disease that leads to end-stage failure in the first two decades of life. Twenty-five percent nephronophthisis cases are caused by large homozygous deletions <i>NPHP1</i>, but six genes responsible for have been identified. Because oligogenic inheritance has described related Bardet-Biedl syndrome, we evaluated whether mutations more than one gene may also be detected nephronophthisis. nephrocystins 1 4 known interact, examined patients with from...
Renal microangiopathies and membranoproliferative GN (MPGN) can manifest similar clinical presentations histology, suggesting the possibility of a common underlying mechanism in some cases. Here, we performed homozygosity mapping whole exome sequencing Turkish consanguineous family identified DGKE gene variants as cause membranoproliferative-like glomerular microangiopathy. Furthermore, two additional cohort 142 unrelated patients diagnosed with GN. This encodes diacylglycerol kinase DGKε,...
Acute kidney injury (AKI) is a common clinical condition of growing incidence. Patients who suffer severe AKI have higher risk developing interstitial fibrosis, chronic disease, and end-stage renal disease later in life. Cellular senescence persistent cell cycle arrest altered gene expression pattern evoked by multiple stressors. The number senescent cells increases with age even small numbers these can induce inflammation fibrosis; indeed, organs including kidneys, the accumulation such...
Severe and recurrent cisplatin-induced acute kidney injury (AKI) as part of standard cancer therapy is a known risk factor for development chronic disease (CKD). The specific role superoxide (O2•-)-mediated disruption mitochondrial oxidative metabolism in CKD after cisplatin treatment unexplored. Cisplatin typically administered weekly or tri-weekly cycles therapy. To investigate the O2•- predisposing patients to future renal CKD, mice were treated with mitochondrial-specific, dismutase...
Background: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations nine genes ( NPHP1-9 ) have been identified. NPHP can be associated with retinal degeneration (Senior-Løken syndrome), brainstem cerebellar anomalies (Joubert or liver fibrosis. Methods: To identify causative gene for subset patients fibrosis, authors performed genome wide linkage search consanguineous family three...
The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most frequent genetic cause of terminal renal failure in first 3 decades life. Ten causative genes (NPHP1-NPHP9 and NPHP11), whose products localize to primary cilia-centrosome complex, support unifying concept that cystic diseases are "ciliopathies". Using genome-wide homozygosity mapping, we report here what believe be a new locus (NPHP-like 1 [NPHPL1]) for an NPHP-like nephropathy. In 2 families with phenotype,...
Article6 December 2018Open Access Transparent process Prominin-1 controls stem cell activation by orchestrating ciliary dynamics Donald Singer Peninsula Dental School, University of Plymouth, UK Search for more papers this author Kristina Thamm Tissue Engineering Laboratories, Biotechnology Center and Molecular Cellular Bioengineering, Technische Universität Dresden, Germany Heng Zhuang Department Cariology, Endodontology Operative Dentistry, Peking School Hospital Stomatology, Beijing,...
Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent genetic cause of chronic renal failure in first three decades life. Mutations eight genes (NPHP1-8) have been identified. We here describe a combined approach for mutation screening NPHP1, NPHP2, NPHP3, NPHP4, and NPHP5 worldwide cohort 470 unrelated patients with NPHP. First, homozygous NPHP1 deletions were detected 97 (21%) by multiplex PCR. Second, 25 infantile NPHP screened mutations inversin...
Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy and glomerulocystic disease. Symptoms include renal salt wasting, hyperuricemia, gout, hypertension end-stage MCKD is part of the 'nephronophthisis–MCKD complex', a group diseases. Both disorders have an indistinguishable histology cysts observed in either. For most genes mutated...
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in first two decades of life. Mutations three genes (NPHP1, 2, and 3) were identified as causative. Extrarenal manifestations are known, such retinitis pigmentosa (Senior-Løken syndrome, SLS) ocular motor apraxia type Cogan. Recently, we novel gene (NPHP4) mutated NPH. To date, total only 13 different NPHP4 mutations have been described. determine frequency mutations,...