Results 61 to 70 of about 8,333 (256)

Cystic Kidney Diseases From the Adult Nephrologist’s Point of View

Frontiers in Pediatrics, 2018
Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease.
Roman-Ulrich Müller, Thomas Benzing
doaj   +1 more source

The molecular basis of human retinal and vitreoretinal diseases [PDF]

, 2010
During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W, Kloeckener-Gruissem, B, Neidhardt, J   +2 more
core   +1 more source

Nephronophthisis and medullary cystic kidney disease complex [PDF]

Vojnosanitetski Pregled, 2005
Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern
Stanišić Marijana, Hrvačević Rajko, Paunić Zoran, Petrović Stanko   +3 more
doaj   +1 more source

A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient. [PDF]

Indian J Nephrol
A 30-year-old male born from a consanguineous marriage, with intellectual disability, developmental delay and Type 1 diabetes presented with polyuria and uremic symptoms.
Shankar M, Anusha V, Shetty A, Sreedhara CG, Vinay KS, Aralapuram K, Reddy GG.   +6 more
europepmc   +2 more sources

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Scientific Reports, 2023
Autosomal recessive whole gene deletions of nephrocystin-1 (NPHP1) result in abnormal structure and function of the primary cilia. These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior–Løken ...
Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis   +8 more
doaj   +1 more source

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) [PDF]

, 2010
OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and ...
Al-Mateen, M., Bates, D., Chance, P. F., Clericuzio, C., Demir, H., Dobyns, W. B., Doherty, D., Dorschner, M., Finn, L. S., Gahl, W. A., Gentile, M., Glass, I. A., Gorden, N. T., Gunay-Aygun, M., Hikida, A., Knutzen, D., Ozyurek, H., Parisi, M. A., Phelps, I., Rosenthal, P., van Essen, A. J., Verloes, A., Weigand, H.   +22 more
core   +1 more source

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome [PDF]

, 2012
Joubert syndrome and related diseases (JSRD) are developmental cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, retinal dystrophy and nephronophthisis (a cystic kidney disease).
Amy Barker, Ann-Marie Hynes, Helen R. Dawe, John A. Sayer, Katriina Aalto-Setala, Lorraine Eley, Lynne M. Overman, Roslyn J. Simms, Susan Lindsay, Yu-Zhu Cheng   +9 more
core   +3 more sources

Nephronophthisis-Associated Ciliopathies [PDF]

Journal of the American Society of Nephrology, 2007
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is ...
Friedhelm, Hildebrandt, Weibin, Zhou
openaire   +2 more sources

HeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1α Activation under Serum-Deprived Normoxic Condition

International Journal of Molecular Sciences, 2022
The primary cilium (PC) is a microtubule-based antenna-like organelle projecting from the surface of the cell membrane. We previously reported that PC formation could be regulated by nephronophthisis 3 (NPHP3) expression followed by its interaction with ...
Jae‐Wook Lee, Junkwon Cho, Pham Xuan Thuy, E. Moon   +3 more
semanticscholar   +1 more source

Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

Human Genomics, 2022
Background Abnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat domain (TTC) family members have been reported to play critical roles in cilium organization and function.
Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang, Xiangyu Zhou   +6 more
doaj   +1 more source