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Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Resynthesizing evolutionary and developmental biology.
A new and more robust evolutionary synthesis is emerging that attempts to explain macroevolution as well as microevolutionary events, and the morphogenetic field is seen as a major unit of ontogeny whose changes bring about changes in evolution.
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with…
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
Observations suggest that DIS3L2 has a critical role in RNA metabolism and is essential for the regulation of cell growth and division.
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
- S. Pierce, Karen M. Chisholm, M. King
- BiologyProceedings of the National Academy of Sciences
- 4 April 2011
The relationship between HARS2 and Perrault syndrome illustrates how causality may be demonstrated for extremely rare inherited mutations in essential, highly conserved genes.
Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome
It is reported here that individuals with this disorder show marked locus heterogeneity, and mutations in five separate genes are identified: ORC1, ORC4,ORC6, CDT1 and CDC6, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities.
The cardiofaciocutaneous syndrome
The clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.
DEFECTS OF BLASTOGENESIS
- J. Opitz, G. Zanni, J. F. Reynolds, E. Gilbert-Barness
- MedicineAmerican journal of medical genetics
- 1 January 2004
It is imperative to make ever more effective a science of human teratology with participating reproductive geneticists, obstetricians, neonatologists, ultrasonographers, pediatric/fetal pathologists, cytogeneticists and pediatric geneticists to generate the diagnostic, pathogenetic and causal data necessary to counsel and to comfort the parents.
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
A new gene on Xp22f MIDI (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families, suggests an important role for this gene in midline development.