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Null mutations in LTBP2 cause primary congenital glaucoma.
TLDR
It is reported that null mutations in LTBP2 cause primary congenital glaucoma in four consanguineous families from Pakistan and in patients of Gypsy ethnicity, and localization ofLTBP2 in the anterior segment of the eye, at the ciliary body, and particularly the c auxiliary process is confirmed. Expand
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation
TLDR
This disease provides evidence that a guard-like mechanism of pyrin regulation, originally identified for Nod-like receptors in plant innate immunity, also exists in humans, which guards against autoinflammation in humans. Expand
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
TLDR
The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization. Expand
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload triggers cell death. Mitochondrial Ca2+Expand
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
TLDR
The previously described biological properties of their respective gene families suggest that NLRP7 and C6orf221 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome. Expand
Mutations in TJP2 cause progressive cholestatic liver disease
TLDR
It is shown that protein-truncating mutations in the tight junction protein 2 gene (TJP2) cause failure of protein localization and disruption of tight-junction structure, leading to severe cholestatic liver disease. Expand
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
TLDR
A whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium is described and insights into ciliogenesis complexity and roles for unanticipated pathways in human genetic disease are provided. Expand
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
TLDR
Functional assays of the proteins encoded by the mutant alleles identified in this study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Expand
Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
TLDR
The findings implicate the interplay between DNA methylation and Polycomb at key developmental regulators as a determinant of organism size in mammals. Expand
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta
TLDR
This study confirms for the first time that AMBN mutations cause non-syndromic human AI and that mouse models with disrupted Ambn function are valid. Expand
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