Project description:The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. The changes include the proliferation and dilatation of epithelial ducts in these tissues with abnormal deposition of extracellular matrix. In this review, we examine the clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS), and Jeune asphyxiating thoracic dystrophy (JATD). Extrahepatic manifestations include mostly bone and central nervous system abnormalities, dysmorphic features, and developmental delay. Previously, it has been suggested that ARPKD, JATD, and Ellis-van Creveld syndrome (EvC) may arise from defects in differentiation in a common developmental pathway. We review recent molecular advances in the recessive HRFC syndromes and discuss this hypothesis.

| S-EPMC1735460 | biostudies-other

The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

Project description:The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

| PRJNA625349 | ENA

The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

Project description:The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

| PRJNA625348 | ENA

Deciphering the genetics of mammalian limb growth

Project description:We have used DGE-SAGE, a digital transcriptomics tool, to determine the expression profile of E14.5 mouse forelimbs and hindlimbs. The forelimb, hindlimb developmental lag combined with the analysis of these datasets allow us a better insight into the dynamics of the limb growth genetic network, in particular the characterisation of genes that are differentially expressed and are putative modulators of limb growth and or candidates for limb malformation syndromes. Conclusions: The datasets and results presented in this study allow us to extend the current knowledge of the limb development and constitute an extremely relevant resource for research into the genetics of organ growth and thus ontogenesis. DGE-SAGE expression profiles for E14.5 mouse forelimb and hindlimb

2014-01-01 | E-GEOD-41222 | biostudies-arrayexpress

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