Share This Author
SUMO1 Haploinsufficiency Leads to Cleft Lip and Palate
- F. Alkuraya, I. Saadi, Jennifer J. Lund, A. Turbé-Doan, C. Morton, R. Maas
- 22 September 2006
In mouse, it is found thatSumo1 is expressed in the developing lip and palate and that a Sumo1 hypomorphic allele manifests an incompletely penetrant orofacial clefting phenotype, defining a network of genes important for palatogenesis.
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
A rare autosomal recessive form of SLE is identified, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene, which confirms the critical role of impaired clearance of degraded DNA in SLE pathogenesis.
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
The number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking, are extended and highlight genetic links between fetal growth and postnatal growth and metabolism.
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
To the authors' knowledge, CCNO is the first reported gene linking an inherited human disease to reduced MMC generation due to a defect in centriole amplification and migration.
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects
The mouse Nfia mutant phenotype and the common features among these five human cases indicate that NFIA haploinsufficiency contributes to a novel human CNS malformation syndrome that can also include ureteral and renal defects.
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
A role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome are demonstrated and it is shown that CL-K1 serves as a guidance cue for neural crest cell migration.