Revisiting the embryogenesis of lip and palate development.
Revisiting the embryogenesis of lip and palate development.
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重访唇腭裂发育的胚胎发生。
DOI：
10.1111/odi.14174
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发表时间：
2022-07
期刊：
影响因子：
3.8
通讯作者：
Dixon, Michael J.
中科院分区：
文献类型：
--
作者：
Hammond, Nigel L.;Dixon, Michael J.
唇腭裂（cleft of lip and palate，CLP）是面部先天畸形的主要原因，是胚胎发育过程中面部突起融合失败的结果。CLP的患病率为1/500 - 2500活产婴儿，由于面部外观、喂养、说话、阻塞性呼吸暂停、听力和社会适应问题，CLP在整个生命过程中导致严重的发病率，需要复杂的多学科护理，给全球医疗保健系统带来相当大的成本。受影响个体的长期结局包括与未受影响的兄弟姐妹相比死亡率增加。CLP的频繁发生和造成的重大医疗负担突出了剖析驱动面部发育的分子机制的重要性。识别潜在的CLP综合征形式的基因突变，其中CLP与非唇腭裂临床特征相关，与使用适当动物模型的发育研究相关，对于我们理解唇和腭发育的分子事件以及最终如何在CLP中受到干扰至关重要。
Clefts of the lip and palate (CLP), the major causes of congenital facial malformation globally, result from failure of fusion of the facial processes during embryogenesis. With a prevalence of 1 in 500–2500 live births, CLP causes major morbidity throughout life as a result of problems with facial appearance, feeding, speaking, obstructive apnoea, hearing and social adjustment and requires complex, multi‐disciplinary care at considerable cost to healthcare systems worldwide. Long‐term outcomes for affected individuals include increased mortality compared with their unaffected siblings. The frequent occurrence and major healthcare burden imposed by CLP highlight the importance of dissecting the molecular mechanisms driving facial development. Identification of the genetic mutations underlying syndromic forms of CLP, where CLP occurs in association with non‐cleft clinical features, allied to developmental studies using appropriate animal models is central to our understanding of the molecular events underlying development of the lip and palate and, ultimately, how these are disturbed in CLP.
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影响因子：
5.3
作者：
Beaty, T. H.;Taub, M. A.;Scott, A. F.;Murray, J. C.;Marazita, M. L.;Schwender, H.;Parker, M. M.;Hetmanski, J. B.;Balakrishnan, P.;Mansilla, M. A.;Mangold, E.;Ludwig, K. U.;Noethen, M. M.;Rubini, M.;Elcioglu, N.;Ruczinski, I.
通讯作者：
Ruczinski, I.
遗传对人体组织基因表达的影响。
影响因子：
64.8
作者：
GTEx Consortium;Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group;Statistical Methods groups—Analysis Working Group;Enhancing GTEx (eGTEx) groups;NIH Common Fund;NIH/NCI;NIH/NHGRI;NIH/NIMH;NIH/NIDA;Biospecimen Collection Source Site—NDRI;Biospecimen Collection Source Site—RPCI;Biospecimen Core Resource—VARI;Brain Bank Repository—University of Miami Brain Endowment Bank;Leidos Biomedical—Project Management;ELSI Study;Genome Browser Data Integration &Visualization—EBI;Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz;Lead analysts:;Laboratory, Data Analysis &Coordinating Center (LDACC):;NIH program management:;Biospecimen collection:;Pathology:;eQTL manuscript working group:;Battle A;Brown CD;Engelhardt BE;Montgomery SB
通讯作者：
Montgomery SB
影响因子：
--
作者：
BURDI, AR;FAIST, K
通讯作者：
FAIST, K
影响因子：
4.6
作者：
Cuervo, R;Covarrubias, L
通讯作者：
Covarrubias, L
影响因子：
3.3
作者：
Blavier, L;Lazaryev, A;Kaartinen, V
通讯作者：
Kaartinen, V