Results 81 to 90 of about 8,333 (256)

Senior- Loken Syndrome – A Ciliopathy [PDF]

Journal of Clinical and Diagnostic Research, 2014
Senior – Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto – retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of ...
Hemachandar R
doaj   +1 more source

Centrosome amplification disrupts renal development and causes cystogenesis [PDF]

, 2018
International ...
Amanda Knoten, Arquint, Astrinidis, Battini, Bettencourt-Dias, Bhaskar, Boehlke, Boletta, Brito, Brown, Burtey, Chang-Panesso, Chen, Chi, Coelho, Cosenza, Davenport, Dere, Distefano, Fisher, Ganem, Godinho, Godinho, Godinho, Goto, Habedanck, Hartman, Hendry, Hoshi, Jain, Jain, Janssen, Jinzhi Wang, Jonassen, Keefe Davis, Kobayashi, Krämer, Kulukian, Kyuhwan Shim, Lai Kuan Dionne, Levine, Lin, Ma, Mahjoub, Majumdar, Marthiens, Marthiens, Masato Hoshi, Masyuk, Moe R. Mahjoub, Mugford, Mundlos, Nano, Nigg, Nigg, Ogden, Patel, Quintyne, Renata Basto, Roselli, Saifudeen, Saifudeen, Sanjay Jain, Schmidt-Ott, Serçin, Shao, Sharma, Shillingford, Silkworth, Sillibourne, Simons, Srivastava, Takakura, Tammachote, Tao Cheng, Veronique Marthiens, Vitre, Werner, Yoder, Zhao   +79 more
core   +8 more sources

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression [PDF]

, 2017
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 kidney disease.
Attanasio, Massimo, Baasner, Anne, Beck, Bodo B., Boehm, Christoph W. A., Boehnlein, Joana M., Fischer, Andreas, Hildebrandt, Friedhelm, Hopfer, Helmut, Hoppe, Bernd, Pasch, Andreas, Polishchuk, Roman S., Rampoldi, Luca, Sayer, John A., Steffens, Sarah, Wolf, Matthias T. F., Zaucke, Frank   +15 more
core  

Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]

, 2006
PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E., Moon, D.J., Obara, T., Ong, A.C.M., Streets, A.J.   +4 more
core   +2 more sources

Vinblastine Resistance Is Associated with Nephronophthisis 3-Mediated Primary Cilia via Intraflagellar Transport Protein 88 and Apoptosis-Antagonizing Transcription Factor

International Journal of Molecular Sciences
Primary cilia (PC) are microtubule-based organelles that function as cellular antennae to sense and transduce extracellular signals. Nephronophthisis 3 (NPHP3) is localized in the inversin compartment of PC.
Pham Xuan Thuy, Tae-Kyu Jang, Eun-Yi Moon   +2 more
semanticscholar   +1 more source

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Clinical Case Reports, Volume 13, Issue 9, September 2025.
Multiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Fumiko Yamabe, Takahiro Shindo, Kentaro Haneda, Yoshiyuki Namai, Yutaka Harita   +4 more
wiley   +1 more source

The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis

International Journal of Molecular Sciences, 2021
The primary cilium is found in most mammalian cells and plays a functional role in tissue homeostasis and organ development by modulating key signaling pathways.
F. Mansour, F. Boivin, I. Shaheed, M. Schueler, K. Schmidt-Ott   +4 more
semanticscholar   +1 more source

Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing [PDF]

, 2014
The haploid human genome is composed of three billion base pairs, about one percent of which consists of exonic regions, the coding sequence for functional proteins, also now known as the “exome”.
Barua, Moumita, Brown, Elizabeth J., Pollak, Martin R.   +2 more
core   +1 more source

Involving Adolescents in Decision‐Making in Pediatric Organ Transplantation: A Qualitative Study in Switzerland

Pediatric Transplantation, Volume 29, Issue 6, September 2025.
This is the first interview study exploring the perspectives of transplanted adolescents on decision‐making regarding transplantation, and it shows that they want to be part of decision‐making at different levels of involvement. ABSTRACT Background In pediatrics, the triadic relationships between the adolescent, parents, and healthcare providers, as ...
Alana Vallo‐Sacchettini, Cristina Zimmermann, Olivier Janjic, Michael Rost, Bernice Elger   +4 more
wiley   +1 more source