Research Topics
Genomes and GenesSpecies | Meral Gunay-AygunSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney diseaseMeral Gunay-Aygun
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland The Intramural Program of the Office of Rare Diseases, Bethesda, Maryland Electronic address
Gastroenterology 144:112-121.e2. 2013..We aimed to describe congenital hepatic fibrosis in patients with ARPKD, confirmed by detection of mutations in PKHD1...
Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney diseaseMeral Gunay-Aygun
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
Mol Genet Metab 104:677-81. 2011..Whether some of these individuals become symptomatic as they age remains to be determined...- NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granulesMeral Gunay-Aygun
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 43:732-4. 2011..Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets... - Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Blood 116:4990-5001. 2010..This study is registered at www.clinicaltrials.gov as NCT00069680 and NCT00369421... - Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney diseaseMeral Gunay-Aygun
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Clin J Am Soc Nephrol 5:972-84. 2010..Renal function and imaging findings have not been comprehensively and prospectively characterized in a broad age range of patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD)... - PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosisMeral Gunay-Aygun
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
Mol Genet Metab 99:160-73. 2010..In the meantime, use of PKHD1 sequencing data for clinical decisions requires caution, especially when only novel or rare missense variants are identified... - Liver and kidney disease in ciliopathiesMeral Gunay-Aygun
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bldg 10, Rm 10C103, Bethesda, MD 20892 1851, USA
Am J Med Genet C Semin Med Genet 151:296-306. 2009..This review focuses on the kidney and liver disease found in the different ciliopathies... - MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert SyndromeMeral Gunay-Aygun
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
J Pediatr 155:386-92.e1. 2009..To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS)... 
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical featuresMeral Gunay-Aygun
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Mol Genet Metab 84:1-3. 2005- Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conferenceMeral Gunay-Aygun
National Human Genome Research Institute, the Molecular Imaging Program, National Cancer Institute, The National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-1851, USA
J Pediatr 149:159-64. 2006 - Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney diseaseKevin O'Brien
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
J Pediatr Gastroenterol Nutr 54:83-9. 2012..In contrast, typical liver involvement in ADPKD is polycystic liver disease, although rare atypical cases with CHF are reported. Our goal was to describe the characteristics of CHF in ADPKD... - Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)Shilpa Chetty-John
NIH NHGRI, Medical Genetics Branch, Bethesda, Maryland 20892, USA
Am J Med Genet A 152:2640-5. 2010..Increased awareness and lifelong monitoring of visceral complications, particularly involving the liver, pancreas, and kidney, are essential for timely and accurate treatment... - Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)Baris Turkbey
Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Pediatr Radiol 39:100-11. 2009.... - Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndromeWafika Zarzour
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab 85:125-32. 2005..These two newly described mutations are expected to give rise to a severe phenotype and, indeed, the patient had absolutely no cytotoxicity by natural killer cells or cytotoxic lymphocytes prior to his allogeneic SCT... - Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaAndrew R Cullinane
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
J Invest Dermatol 131:2017-25. 2011.... - Disorders of lysosome-related organelle biogenesis: clinical and molecular geneticsMarjan Huizing
Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892, USA
Annu Rev Genomics Hum Genet 9:359-86. 2008..In this review, we discuss the main components of LRO biogenesis. We also summarize the function, composition, and resident cell types of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders... - Molecular defects that affect platelet dense granulesMeral Gunay-Aygun
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Semin Thromb Hemost 30:537-47. 2004..The gene products involved in these disorders help elucidate the generalized process of the formation of vesicles from extant membranes such as the Golgi...