Results 161 to 170 of about 1,877 (178)

Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

Acta Clinica Belgica, 2019
Objective: Juvenile nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney. It represents the most frequent genetic cause of chronic renal failure in children. Methods: we investigated clinical and molecular features in two children with Juvenile nephronophthisis using firstly Multiplex ligation-dependent probe amplification ...
Mayssa Abdelwahed, Ines Maaloul, Valerie Benoit, Pascale Hilbert, Mongia Hachicha, Hassen Kamoun, Leila Keskes-Ammar, Neila Belguith   +7 more
openaire   +2 more sources

Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2013
We present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. The association of congenital ocular motor apraxia and juvenile nephronophthisis is reviewed.
Brita S, Deacon, R Scott, Lowery, Paul H, Phillips, G Bradley, Schaefer   +3 more
openaire   +2 more sources

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.

Nephrology Dialysis Transplantation, 2006
Nephronophthisis (NPH) is an autosomal recessivenephropathy with chronic tubulointerstitial involve-ment, which represents the leading cause of end-stagerenal disease (ESRD) in children and adolescents.According to the age at onset of ESRD, three forms ofNPH have been described: infantile, juvenile (the mostfrequent) and adolescent.In the juvenile form,
Alexandre Karras, Aude Servais, Corinne Antignac   +2 more
exaly   +3 more sources

[Identification of a new mutation of the NPHP1 gene].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2018
Kidney cystic diseases are inherited disorders causing chronic renal failure. According to the genetic defect they are classified as diseases of the primary ciliary complex and uromodulin-associated diseases. Mutations in genes coding for ciliary proteins are the basis of a broad category of genetic diseases, called ciliopathies.
La Russa A., Cifarelli R. A., Perri A., Saracino A., Santarsia G., Bonofiglio R.   +5 more
openaire   +2 more sources

ZONAB regulates renal cyst formation in nphp1 knockout mice

Translational Research
Tubular dilation and cyst formation at the corticomedullary junction are distinct pathological features of nephronophthisis (NPH) and may be associated with disease progression. However, the mechanism of renal cyst formation in NPH is unclear. Increased cell proliferation is necessary for cyst formation.
Jiayong Lai, Xiaoya Wei, Dantong Li, Xiaohong Wu, Yaqing Liu, Huamu Chen, Zhihui Yue, Liangzhong Sun   +7 more
openaire   +2 more sources

Chilren with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronopthisis

The Journal of Pediatrics, 2000
Congenital ocular motor apraxia type Cogan is characterized by impairment of horizontal voluntary eye movements, ocular attraction movements, and optokinetic nystagmus. Two patients with congenital ocular motor apraxia type Cogan exhibited a newly recognized association with nephronophthisis type 1, an autosomal recessive kidney disease.
R, Betz, C, Rensing, E, Otto, A, Mincheva, D, Zehnder, P, Lichter, F, Hildebrandt   +6 more
openaire   +2 more sources

Atypical Histological Abnormalities in Patients with Nephronophthisis Diagnosed with NPHP1 Deletion

Journal of the American Society of Nephrology, 2020
Maiko Akira, Hitoshi Suzuki, Arisa Ikeda, Masako Iwasaki, Daisuke Honda, Hisatsugu Takahara, Shigeki Tomita, Hisaki Rinno, Yusuke Suzuki   +8 more
openaire   +1 more source

Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

Acta Clinica Belgica, 2021
Mayssa Abdelwahed, Hassen Kamoun, Inés Maaloul   +2 more
exaly  

Overexpression of smad7 inhibits the TGF-β/Smad signaling pathway and EMT in -defective MDCK cells

Biochemical and Biophysical Research Communications, 2021
Liangzhong Sun, Huamu Chen, Hongrong Lin
exaly  

Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population

Pathologie Biologie, 2012
I, Chaari, M, Trabelsi, R, Goucha, Y, Elaribi, M, Kharrat, T, Guarguah, F, Maazoul, H, Chaabouni, R, M'rad   +8 more
openaire   +2 more sources