Results 151 to 160 of about 1,877 (178)
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions [PDF]
Clinical Chemistry and Laboratory Medicine, 2017 Abstract Background: Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal failure. The deletion of its major gene, NPHP1, with a minor allele frequency of 0.24% in the general population, is the most common mutation leading to a monogenic form of childhood chronic renal failure.
Kálmán Tory +2 more
exaly +6 more sources
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome [PDF]
American Journal of Human Genetics, 2014 Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic interval has also been detected in individuals with Joubert syndrome (JBTS), and in the mouse, Nphp1 interacts genetically with Ahi1, a known JBTS locus. Given these observations, we investigated
Davut Pehlivan +2 more
exaly +4 more sources
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NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy
Kidney International, 2021Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. Nephrocystin 1, the gene product of NPHP1, is also expressed in photoreceptors where it plays an important role in intra-flagellar transport between the inner and outer segments.
Johannes Birtel +2 more
exaly +3 more sources
ACS Chemical Biology, 2019 Mutations in the NPHP1 gene, coding for human nephrocystin-1 (NPHP1), cause the autosomal recessive disease nephronophthisis, the most common cause of end-stage renal disease in children and adolescents.
Giovanna Musco +2 more
exaly +3 more sources
Clinical Pediatrics, 2023
Homozygous deletion of NPHP1 can lead to isolated nephronophthisis (NPHP) and syndromic disorders. However, the phenotype of scalp tumor and hydroureteronephrosis in NPHP patients with homozygous deletion of NPHP1 has not been reported. Clinical data, laboratory results, and genetic testing of 4 NPHP patients were collected.
Huajuan Tong +5 more
openaire +2 more sources
Homozygous deletion of NPHP1 can lead to isolated nephronophthisis (NPHP) and syndromic disorders. However, the phenotype of scalp tumor and hydroureteronephrosis in NPHP patients with homozygous deletion of NPHP1 has not been reported. Clinical data, laboratory results, and genetic testing of 4 NPHP patients were collected.
Huajuan Tong +5 more
openaire +2 more sources
NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE–ROD DYSTROPHY
RETINAL Cases & Brief Reports, 2021Purpose: To describe in detail the structural and functional phenotypes of a patient with cone–rod dystrophy associated with a full deletion of the NPHP1 gene. Methods: A 30-year-old man with a history of end-stage renal disease presented with progressive vision loss in early ...
Zujaja, Tauqeer +3 more
openaire +2 more sources
Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis [PDF]
American Journal of Human Genetics, 2000 Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene, NPHP1, responsible for approximately 85% of the purely renal form of nephronophthisis, has been mapped to 2q13 and characterized. The major NPHP1 gene defect
Jean Weissenbach +2 more
exaly +3 more sources
Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility
Andrology, 2015NPHP1, the gene that encodes the protein nephrocystin-1 has been identified to be mutated in Juvenile Nephronophthisis, an autosomal recessive cystic kidney disorder which is the most frequent genetic cause of end-stage renal disease (ESRD) in children and young adults.
Pradeep Kumar
exaly +3 more sources
Brain and Development, 2021
Joubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are notable.We report a patient Joubert syndrome with a homozygous NPHP1 variant, who had head titubation with ...
Yoshie Sakurai +8 more
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Joubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are notable.We report a patient Joubert syndrome with a homozygous NPHP1 variant, who had head titubation with ...
Yoshie Sakurai +8 more
openaire +2 more sources
Identification of an NPHP1 deletion causing adult form of nephronophthisis
Irish Journal of Medical Science (1971 -), 2015Nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney with main characteristic features of polyuria/polydipsia, mild or absent proteinuria, interstitial fibrosis, and tubular cysts. NPHP is responsible for 5-10 % of inheritable end-stage renal disease (ESRD) cases. We investigated the clinical features and genetic cause of NPHP
A, Haghighi +5 more
openaire +2 more sources