#1Jesse Slone(Cincinnati Children's Hospital Medical Center)H-Index: 12
#2Weiwei Zou(Cincinnati Children's Hospital Medical Center)
Last. Wuh-Liang Hwu(NTU: National Taiwan University)H-Index: 42
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With very few exceptions, mitochondrial DNA (mtDNA) in humans is transmitted exclusively from mothers to their offspring, suggesting the presence of a strong evolutionary pressure favoring the exclusion of paternal mtDNA. We have recently shown strong evidence of paternal mtDNA transmission. In these rare situations, males exhibiting biparental mtDNA appear to be limited to transmitting just one of the mtDNA species to their offspring, while females possessing biparental mtDNA populations consis...
#1Maisam Abu-El-Haija(University of Cincinnati Academic Health Center)H-Index: 11
#1Maisam Abu-El-Haija(University of Cincinnati Academic Health Center)H-Index: 8
Last. Lee A. Denson(University of Cincinnati Academic Health Center)H-Index: 38
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Abstract Background/objectives Acute pancreatitis (AP) is emerging in pediatrics. A subset of children with AP progresses to acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP). The role of extensive gene testing in the progression has not been investigated previously. We have followed children enrolled in the registry and at our center for progression to ARP and CP after the first attack. Methods This study utilizes an extensive gene sequencing panel as a platform to evaluate the r...
#1Shiyu Luo(Cincinnati Children's Hospital Medical Center)H-Index: 4
#1Shiyu Luo(Cincinnati Children's Hospital Medical Center)H-Index: 4
Last. Taosheng Huang(Cincinnati Children's Hospital Medical Center)H-Index: 22
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In Luo et al. (1), we report the transmission of paternal mtDNA in 17 individuals across three unrelated families. In their letter responding to this paper, Lutz-Bonengel et al. (2) argue that these results do not provide sufficient evidence for paternal inheritance of mtDNA. Instead, they propose that these biparental inheritance events are the result of “nuclear elements of mtDNA” [(numts), or nuclear mtDNA segments (NUMTs)]. Although rare, nearly full-length mtDNA insertions have been occasio...
#1Shiyu Luo(Cincinnati Children's Hospital Medical Center)H-Index: 4
#1Shiyu Luo(Cincinnati Children's Hospital Medical Center)H-Index: 4
Last. Taosheng Huang(Cincinnati Children's Hospital Medical Center)H-Index: 22
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Although there has been considerable debate about whether paternal mitochondrial DNA (mtDNA) transmission may coexist with maternal transmission of mtDNA, it is generally believed that mitochondria and mtDNA are exclusively maternally inherited in humans. Here, we identified three unrelated multigeneration families with a high level of mtDNA heteroplasmy (ranging from 24 to 76%) in a total of 17 individuals. Heteroplasmy of mtDNA was independently examined by high-depth whole mtDNA sequencing an...
: Type 3C Diabetes, or diseases of the exocrine pancreas has been reported to occur in approximately 30% of adult patient with pancreatitis. The incidence of glucose abnormalities or risk factors that may predict the development of abnormal glucose in the pediatric pancreatitis population is not known. We performed a retrospective chart review from 1998-2016 for patients who carry the diagnosis of acute pancreatitis (AP), acute recurrent pancreatitis (ARP), and chronic pancreatitis (CP). We extr...
#1Xinjian Wang(Cincinnati Children's Hospital Medical Center)H-Index: 20
#2Lisa Dyer(University of Cincinnati Academic Health Center)H-Index: 7
Last. C. Alexander Valencia(University of Cincinnati Academic Health Center)H-Index: 20
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Hearing loss is the most common birth defect and sensorineural disorder in humans. Hearing loss can be syndromic or nonsyndromic and can be further divided based on mode of inheritance. With over 100 genes responsible for the etiology of hearing loss, Sanger sequencing, being a traditional gene-by-gene approach, has become an unfavorable strategy in terms of cost and time. Next-generation sequencing technology offers the advantage of sequencing multiple genes in parallel with lower cost and high...