Faculty Opinions recommendation of Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.

Author(s):  
Adrian Woolf
2006 ◽  
Vol 17 (10) ◽  
pp. 2864-2870 ◽  
Author(s):  
Stefanie Weber ◽  
Vincent Moriniere ◽  
Tanja Knüppel ◽  
Marina Charbit ◽  
Jirí Dusek ◽  
...  

Skull Base ◽  
2007 ◽  
Vol 17 (S 2) ◽  
Author(s):  
Michael Kelley ◽  
Josh Sommer ◽  
Sufeng Li ◽  
Enyu Ding ◽  
Fan Dong
Keyword(s):  

1980 ◽  
Vol 6 (2) ◽  
pp. 153-162 ◽  
Author(s):  
Tahmouresse Toussi ◽  
Fahed Halal ◽  
Robert Lesage ◽  
Fernand Delorme ◽  
André Bergeron ◽  
...  

2005 ◽  
Vol 83 (10) ◽  
pp. 1207-1221 ◽  
Author(s):  
Christian Lacroix ◽  
Bernard Jeune ◽  
Denis Barabé

Recent advances in molecular genetics are prompting developmental plant morphologists to refine the theoretical context of their field. For example, at the level of the action of certain developmental genes, the distinction between recognized structural categories (i.e., stem and leaf) are not obvious. This issue has also been analyzed by morphologists from qualitative and quantitative perspectives and has lead to similar conclusions. Consequently, the classical approach to morphology with a typological view of organ categories is no longer sufficient to explain the set of all possible forms. However, within the context of a dynamic morphology, where processes of development such as growth rate, duration, and distribution are considered, a more encompassing view of the generation of form can be achieved. We therefore propose that classical morphology is a subset of dynamic morphology. The main goal of this paper is to show how new concepts and methods of viewing plant morphology allow us to build a conceptual theoretical framework that may have a predictive value with respect to morphological characteristics as well as molecular properties of organs. The main premise of this commentary, within the context of dynamic morphology, is that the plant consists of an encasement of structures or a nesting of partially similar units. Common developmental processes are in operation at each structural level and variations in the modalities of these processes lead to the development of specific structures. Repeating polymorphic sets (RPS) represent an extension of this perspective on plant development and have the potential to predict the existence of new, perhaps unknown forms. The idea of repeating polymorphic sets can also be extended to outline the activity of specific developmental genes to explain how a wide variety of those genes are interrelated during development to specify form.


2022 ◽  
Vol 9 ◽  
Author(s):  
Yu-Ming Chang ◽  
Chih-Chia Chen ◽  
Ni-Chung Lee ◽  
Junne-Ming Sung ◽  
Yen-Yin Chou ◽  
...  

Paired box 2 (PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD). Despite reported low prevalence of PAX2 mutations, the prevalence of PAX2 related disorders may have been underestimated in past studies. With improved genetic sequencing techniques, more genetic abnormalities are being detected than ever before. Here, we report three patients from two families with PAX2 mutations identified within 1 year. Two patients were adults with chronic kidney disease and were followed for decades without correct diagnoses, including one with ESRD who had even undergone kidney transplant. The third patient was a neonate in whom PAX2-related disorder manifested as oligohydramnios, coloboma, and renal failure that progressed to ESRD within 1 year after birth. The phenotypes of PAX2 gene mutation were shown to be highly variable, even within the same family. Early detection promoted genetic counseling and guided clinical management. The appropriate time point for genetic study is an important issue. Clinicians must be more alert for PAX2 mutation when facing patients with congenital kidney and urinary tract anomalies, chronic kidney disease of unknown etiology, involvement of multiple systems, and/or a family history of renal disease.


PLoS ONE ◽  
2012 ◽  
Vol 7 (5) ◽  
pp. e35202 ◽  
Author(s):  
Deborah I. Ritter ◽  
Zhiqiang Dong ◽  
Su Guo ◽  
Jeffrey H. Chuang

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