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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Cloning, sequencing, and viscometric adhesion analysis of heat-resistant agglutinin 1, an integral membrane hemagglutinin from Escherichia coli O9:H10:K99
- P. Lutwyche, R. Rupps, J. Cavanagh, R. Warren, D. Brooks
- BiologyInfection and immunity
- 1 November 1994
The observations suggest that HRA1 is a monomeric outer membrane agglutinin, strongly associated with the bacterial membrane, resisting sonication and isolation attempts based upon standard adhesin purification techniques.
A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact
A novel KCNQ1 mutation in this founder population likely confers increased susceptibility to arrhythmias because of decreased IKs current, exemplifying the multifactorial nature of long QT syndrome and supporting the difficulty of definitive diagnosis without genetic testing.
Characteristics of primary biliary cirrhosis in British Columbia's First Nations population.
A strong genetic predisposition to PBC and other autoimmune diseases, combined with common environmental factors, is postulated in this population of First Nations patients.
Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization
- Cheryl Descipio, L. Conlin, I. Krantz
- BiologyAmerican journal of medical genetics. Part A
- 1 September 2012
Molecular mapping of the 19 individuals reported in this study has identified two genes, ZMYND11 and DIP2C (OMIM 611380; UCSC Genome Browser), mapping within 10p15.3 which are most commonly deleted.
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome
It is concluded that early detection of LRP5 mutations is important for initiation of treatment of reduced bone density in the patients and their carrier relatives.
Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.
- H. Bruyèrè, R. Rupps, B. Kuchinka, J. Friedman, W. Robinson
- MedicineAmerican journal of medical genetics
- 4 September 2000
It is suggested that a somatic nondisjunction in the maternal germ cells is the most likely explanation for recurrent trisomy 21 findings, and that mosaicism in germ cells may account for more cases than is detected cytogenetically.
Phenotypic evolution of UNC80 loss of function
- E. Valkanas, Katherine Schaffer, C. Boerkoel
- Biology, MedicineAmerican journal of medical genetics. Part A
- 11 August 2016
Two female siblings with spastic paraplegia and global developmental delay are described but also, atypically for the HSPs, poor weight gain classified as failure to thrive, expanding the disease spectrum associated with UNC80 mutations.
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation
- C. Dias, A. McDonald, C. Boerkoel
- Medicine, BiologyEuropean Journal of Human Genetics
- 27 February 2013
Observations extend the spectrum of disease associated with perforin mutations to immune-mediated neurodegeneration triggered by infection and possibly due to primary immunodeficiency.
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature
This study provides further evidence that maternally inherited duplications of 11p15.5 result in a SRS phenotype that includes short stature and other variable features, and indicates the different phenotype based on parental mode of transmission is of importance in the genetic counseling of these patients.