MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1002/humu.23590

Медицинская библиотека · Human mutation · 2018

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.

Roessler Erich, Hu Ping, Marino Juliana, Hong Sungkook, Hart Rachel, Berger Seth, Martinez Ariel, Abe Yu, Kruszka Paul, Thomas James W, Mullikin James C, NISC Comparative Sequencing Program, Wang Yupeng, Wong Wendy S W, Niederhuber John E, Solomon Benjamin D, Richieri-Costa Antônio, Ribeiro-Bicudo L A, Muenke Maximilian

СтатьяResearch Support, N.I.H., IntramuralПеревод в очереди

Аннотация

Here, we applied targeted capture to examine 153 genes representative of all the major vertebrate developmental pathways among 333 probands to rank their relative significance as causes for holoprosencephaly (HPE). We now show that comparisons of variant transmission versus nontransmission among 136 HPE Trios indicates some reported genes now lack confirmation, while novel genes are implicated. Furthermore, we demonstrate that variation of modest intrinsic effect can synergize with these driver mutations as gene modifiers.

Для цитирования: Roessler Erich, Hu Ping, Marino Juliana, Hong Sungkook, Hart Rachel, Berger Seth, Martinez Ariel, Abe Yu, Kruszka Paul, Thomas James W, Mullikin James C, NISC Comparative Sequencing Program, Wang Yupeng, Wong Wendy S W, Niederhuber John E, Solomon Benjamin D, Richieri-Costa Antônio, Ribeiro-Bicudo L A, Muenke Maximilian. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.. Human mutation. 2018. DOI: 10.1002/humu.23590.

Предметные рубрики MeSH

Fibroblast Growth FactorsGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHedgehog ProteinsHoloprosencephalyHumansInheritance PatternsMutationPhenotypeSignal TransductionSyndromeTransforming Growth Factor beta
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.