The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
, 2016 INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda +17 more
core +1 more source
Aggressive prostate cancer is associated with pericyte dysfunction
Molecular Oncology, EarlyView.Tumor‐produced TGF‐β drives pericyte dysfunction in prostate cancer. This dysfunction is characterized by downregulation of some canonical pericyte markers (i.e., DES, CSPG4, and ACTA2) while maintaining the expression of others (i.e., PDGFRB, NOTCH3, and RGS5).
Anabel Martinez‐Romero +11 more
wiley +1 more source
Case report: Langerhans cell histiocytosis of the temporal bone in children: Challenging diagnosis of a rare disease with some pitfalls [PDF]
, 2022 Anja Pähler vor der Holte +1 more
openalex +1 more source
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. [PDF]
, 2019 It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene1. The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most ...
Ashley, Euan A +35 more
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Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion [PDF]
, 1998 Linkage disequilibrium has been a powerful tool in identifying rare disease alleles in human populations. To date, most research has been directed to isolated populations which have undergone a bottleneck followed by rapid exponential expansion.
Laan, Maris +3 more
core +1 more source
Molecular Oncology, EarlyView.Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad +12 more
wiley +1 more source
Communications BiologyWhile significant advances have been made in understanding renal pathophysiology, less is known about the role of glycosphingolipid (GSL) metabolism in driving organ dysfunction.
Agnes Cheong +24 more
doaj +1 more source
Presymptomatic risk assessment for chronic non-communicable diseases [PDF]
, 2010 The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that can be used for
AC Morrison +34 more
core +4 more sources
Molecular Oncology, EarlyView.We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck +12 more
wiley +1 more source
The Italian National Rare Diseases Registry. [PDF]
INTRODUCTION:Rare disease registries are a priority at European level and specific actions are being implemented by the European Commission to support their development.In Italy, a National Registry of rare diseases has been established in 2001 as a ...
Bianchi, Fabrizio +5 more
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