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Article
Open AccessBiallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CN...
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Article
Open AccessThe serotonin receptor 3E variant is a risk factor for female IBS-D
Irritable bowel syndrome (IBS) is a gut-brain disorder of multifactorial origin. Evidence of disturbed serotonergic function in IBS accumulated for the 5-HT3 receptor family. 5-HT3Rs are encoded by HTR3 genes and...
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When Intelligence Is Impaired
The past decade has seen a wealth of discoveries that have led to the elucidation and understanding of neurodevelopmental disorders, including mental retardation and autism spectrum disorder. These successes w...
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Article
Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders
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Article
Open AccessImbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders
Mutations in SHANK genes play an undisputed role in neuropsychiatric disorders. Until now, research has focused on the postsynaptic function of SHANKs, and prominent postsynaptic alterations in glutamatergic sign...
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Article
Open AccessParkinson mice show functional and molecular changes in the gut long before motoric disease onset
There is increasing evidence that Parkinson’s disease (PD) might start in the gut, thus involving and compromising also the enteric nervous system (ENS). At the clinical onset of the disease the majority of do...
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Article
Open AccessEmerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder
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Article
Open AccessSHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells
SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD). Using CRISPR/Cas9 genome editing, we obtained SH-SY5Y...
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Article
Open AccessInhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity
The neuropathological hallmarks of Parkinson’s disease include preferential vulnerability of dopaminergic neurons of the substantia nigra pars compacta, and accumulation of intraneuronal protein inclusions kno...
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Article
Open AccessA direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders
Mutations in the SHANK genes, which encode postsynaptic scaffolding proteins, have been linked to a spectrum of neurodevelopmental disorders. The SHANK genes and the schizophrenia-associated microRNA-137 show con...
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Article
Open AccessmiR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome
Irritable bowel syndrome (IBS) is a gut-brain disorder involving alterations in intestinal sensitivity and motility. Serotonin 5-HT4 receptors are promising candidates in IBS pathophysiology since they regulate g...
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Article
Open AccessCoding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation
Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia with a strong genetic component. Molecular pathways involving the homeodomain transcription factor Shox2 control the development and function o...
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Article
Height matters—from monogenic disorders to normal variation
In this Review, the authors discuss the genetics of height, including examples of rare sequence variants that can result in large effects on height and common variants with small effects on height. The key cha...
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Article
Open AccessThe distinct and overlap** phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders
Rare disruptions of FOXP2 have been strongly implicated in deficits in language development. Research over the past decade has suggested a role in the formation of underlying neural circuits required for speech. ...
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Short Stature Homeobox-Containing (SHOX) Gene Deficiency: Genetics and Growth Response to Growth Hormone Treatment in Comparison with Turner Syndrome
Short stature, affecting approximately 2–3% of children, is one of the most frequent conditions in childhood for which clinical attention is sought from pediatric endocrinologists. Many genes are required for ...
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Article
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Gudrun Rappold and colleagues report the identification of de novo deletions in SHANK2 in two unrelated individuals. One individual was diagnosed with autism spectrum disorder and the other with mental retardatio...
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Article
Molecular characterization of a ring X chromosome in a male with short stature
We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring ...
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Article
Direct Evidence for the Homo—Pan Clade
For a long time, the evolutionary relationship between human and African apes, the 'trichotomy problem', has been debated with strong differences in opinion and interpretation. Statistical analyses of differen...
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Chapter
Pulsed-Field Gel Electrophoresis: Protocols
Pulsed-field gel electrophoresis (PFGE) techniques in combination with the cloning of large fragments of DNA into yeast artificial chromosomes (YACs) have revolutionized physical map** in molecular genetics ...
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Article
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
Growth retardation resulting in short stature is a major concern for parents and due to its great variety of causes, a complex diagnostic challenge for clinicians. A major locus involved in linear growth has b...
