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P-Glycoprotein Expression in Indian Breast Cancer Patients with Reference to Molecular Subtypes and Response to Anthracycline-Based Chemotherapy—a Prospective Clinical Study from a Develo** Country
Chemo-resistance is an important factor determining the response of tumor to neoadjuvant chemotherapy (NACT). Our study was aimed to determine the...
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Chemotherapy in pregnancy: exploratory study of the effects of paclitaxel on the expression of placental drug transporters
Introduction The use of paclitaxel in pregnant cancer patients is feasible in terms of fetal safety, but little is known about the effects of...
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The role of the clinician in the multi-omics era: are you ready?
Since Garrod’s first description of alkaptonuria in 1902, and newborn screening for phenylketonuria introduced in the 1960s, P4 medicine (preventive,...
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Motoneuronerkrankungen
The causes of degenerative disease of the upper and lower motor neurons are incompletely understood. In this review the current concepts in the...
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Update on the Genetics of Spastic Paraplegias
Purpose of ReviewHereditary spastic paraplegias are a genetically heterogeneous group of neurological disorders. Patients present lower limb weakness...
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New in Newborn Screening
Purpose of ReviewSince the nationwide implementation of the expanded newborn screen in 2006, five conditions have been added to the core screening...
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Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme
BackgroundA decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an...
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Identification of differentially expressed genes and signaling pathways using bioinformatics in interstitial lung disease due to tyrosine kinase inhibitors targeting the epidermal growth factor receptor
Interstitial lung disease (ILD) is a rare but lethal adverse effect of epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs)...
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Adulthood leukodystrophies
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and...
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Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history
X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly complex clinical presentation. ALD is caused by mutations in...
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Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism
The ability to reprogram somatic cells to induced pluripotent stem cells (iPSCs) has revolutionized the way of modeling human disease. Especially for...
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Epidemiology, pathogenesis, and diagnosis of Addison’s disease in adults
BackgroundAddison’s disease (AD) is a rare disorder and among adult population in developed countries is most commonly caused by autoimmunity. In...
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Single-nucleotide and copy-number variance related to severity of hypospadias
BackgroundThe genetic association of hypospadias-risk studies has been conducted in Caucasians, Chinese-Han populations and few in Indian...
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Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: a suitable choice in an urgent situation
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only treatment that enhances survival and stabilizes neurologic symptoms in X-linked...
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The functional genomics laboratory: functional validation of genetic variants
Currently, one of the main challenges in human molecular genetics is the interpretation of rare genetic variants of unknown clinical significance. A...
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Inborn errors of metabolism associated with psychosis: literature review and case–control study using exome data from 5090 adult individuals
A literature review was conducted, using the computerized “Online Mendelian Inheritance in Man” (OMIM) and PubMed, to identify inborn errors of...
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Neuroimaging of Pediatric Metabolic Disorders with Emphasis on Diffusion-Weighted Imaging and MR Spectroscopy: A Pictorial Essay
Purpose of ReviewAlthough individually rare, metabolic brain disorders together account for significant disease burden in infants and children. MRI...
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A novel method for determining peroxisomal fatty acid β-oxidation
The purpose of this study is to establish an assay method to screen for chemical compounds that stimulate peroxisomal fatty acid β-oxidation activity...
