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Correction to: Transcriptome of CD8+ tumor-infiltrating T cells: a link between diabetes and colorectal cancer
A correction to this paper has been published: https://doi.org/10.1007/s00262-021-02903-w
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Article
Transcriptome of CD8+ tumor-infiltrating T cells: a link between diabetes and colorectal cancer
There is an increased risk of colorectal cancer (CRC) development in patients with non-insulin-dependent type 2 diabetes. CD8+ T cells have been implicated in diabetes and are crucial for anti-tumor immunity. How...
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Article
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
Pseudouridylation is the most common post-transcriptional modification, wherein uridine is isomerized into 5-ribosyluracil (pseudouridine, Ψ). The resulting increase in base stacking and creation of additional...
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Article
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
Grant Stewart, Andrew Jackson, Christopher Mathew, Fowzan Alkuraya and colleagues identify a novel replication fork protein, DONSON, which is important for maintaining genome stability. Mutations in DONSON cause ...
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Article
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical ...
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Article
Open AccessCharacterizing the morbid genome of ciliopathies
Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge...
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Article
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures
Dominant gain-of-function mutations of the KCNMA1 gene, encoding the pore-forming subunit of the large conductance voltage- and Ca2+-activated K+ channel, have been described in a few patients with the syndrome o...
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Article
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans
Primary microcephaly is a clinical phenotype in which the head circumference is significantly reduced at birth due to abnormal brain development, primarily at the cortical level. Despite the marked genetic het...
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Article
Open AccessHyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractabl...
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Article
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition
Intellectual disability is a common and highly heterogeneous disorder etiologically. In a multiplex consanguineous family, we applied autozygosity map** and exome sequencing and identified a novel homozygous...
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Article
On the phenotypic spectrum of serine biosynthesis defects
L-serine is a non-essential amino acid that is de novo synthesized via the enzymes phosphoglycerate dehydrogenase (PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP). Besides its ro...
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Article
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Ehlers–Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations ca...
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Article
Open AccessFBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy
Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy causing systolic dysfunction and heart failure. Rare variants in more than 30 genes, mostly encoding sarcomeric proteins and proteins of the cyto...
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Article
T (brachyury) is linked to a Mendelian form of neural tube defects in humans
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Open AccessMutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism
Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic heterogeneity.
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Article
Revisiting disease genes based on whole-exome sequencing in consanguineous populations
Assigning a causal role for genes in disease states is one of the most significant medical applications of human genetics research. The requirement for at least two different pathogenic alleles in the same gen...
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Article
A truncating mutation in B3GNT1 causes severe Walker–Warburg syndrome
Walker–Warburg syndrome (WWS) is a genetically heterogeneous form of congenital muscular dystrophy with significant brain and ocular involvement. In a multiplex consanguineous family with severe WWS phenotype,...
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Article
Cereulide-producing strains of Bacillus cereus show diversity
Producers of cereulide, the emetic toxin of Bacillus cereus, are known to constitute a specific subset within this species. We investigated physiological and genetic properties of 24 strains of B. cereus includin...
