Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: Not all null alleles are alike

Article Abstract:

Potential trans-regulatory sequences that reside within the genomic interval surrounding Rai1 are the major modifying genetic elements affecting the craniofacial penetrance, which is one of the major clinical manifestations of Smith-Magenis syndrome (SMS). The complicated control of the penetrance for one phenotype in SMS mouse models have provided tools to evaluate molecular mechanisms for penetrance and have shown that a null allele caused by chromosomal deletion can have different phenotypic consequences than one caused by gene inactivation.

Chromosome deletion, Craniofacial abnormalities, Report

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Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

Article Abstract:

Vesicoureteral reflux (VUR), characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, is one of the most common clinical manifestations of congenital anomalies of the kidney and urinary tract (CAKUT). An examination of such cases shows that the disruption of ROBO2 proteins is associated with urinary tract anomalies and gives rise to risk of VUR.

Analysis, Translocation (Genetics), Translocations (Genetics), Bladder diseases, Bladder exstrophy, Congenital bladder anomalies

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Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and delineation of dosage-sensitive critical interval that can convey an autism phenotype

Article Abstract:

The molecular assays of 35 subjects with dup(17)(p11.2p11.2) are reported. Phenotypic characterization of this microduplication syndrome shows mental retardation, autistic features and structural cardiovascular anomalies.

Cardiovascular diseases, Physiological aspects, Autism, Phenotype, Phenotypes, Chromosome replication, Mental retardation

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