Publications by authors named "M D Kamen"
Article Synopsis
- The study aimed to clarify the role of X chromosome parent of origin (POX) in phenotypic variations associated with Klinefelter syndrome (XXY) by analyzing a larger cohort and more detailed assessments.
- Researchers sequenced genomes of 58 XXY individuals and their parents and evaluated 66 neurobehavioral traits and over 1000 anatomical features, discovering that maternal POX was present in 60.3% of cases but found no significant POX effects on cognitive or behavioral outcomes.
- However, neuroimaging revealed two brain regions with greater surface area associated with paternal POX, indicating some localized anatomical differences but no corresponding behavioral impacts, suggesting the need to explore other factors
Article Synopsis
- Researchers studied how certain genetic changes, called copy number variants (CNVs), affect immune system problems in kids.
- They tested 332 children and found that many could be diagnosed using two types of genetic tests: exome sequencing (ES) and chromosomal microarray analysis (CMA).
- Combining both tests helped doctors understand complicated cases better and sometimes find more than one issue causing the health problems.
Given the expected rise in genomic sequencing projects within the US Military and the increased availability of genetic testing to the United States as a whole, current and prospective active-duty service members (SMs) may undergo genetic counseling services in the civilian sector for pre-test and post-test counseling. The overall goal of this study was to better understand genetic counselors' preparedness to address military-specific policies and psychosocial needs of patients from this underrepresented population. Members of the National Society of Genetic Counselors were asked to complete a four-part survey including demographic information, Likert scale questions to separately rate self-efficacy when working with civilians and SMs, case scenarios with multiple-choice options and open-ended responses to assess knowledge of military policy, and open-ended questions regarding psychosocial scenarios related to military service.
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- This study focused on a holistic genetic evaluation of patients with immune-related issues, recognizing that multiple genetic factors might contribute to their health conditions rather than just a single gene explanation.
- Researchers analyzed genetic data from 1505 individuals, uncovering 361 molecular diagnoses linked to various immune presentations, with significant updates obtained through reanalysis and new gene discoveries.
- The findings indicate that the majority of molecular diagnoses could inform treatment options, highlighting the potential for whole exome analysis to enhance our understanding of genetic contributions to health on a large scale.
There are two equally abundant high-potential iron sulfur protein (HiPIP) isozymes present in the purple sulfur bacterium Ectothiorhodospira vacuolata. We have determined the amino acid sequences, which contain 71 and 72 residues. The two HiPIPs can be aligned without any internal insertions or deletions and are 65% identical to one another.
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