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2020年8月3日 · Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction.

Joubert综合征 (JBTS，OMIM#213300)是一种主要由纤毛发育及功能障碍引起的高度遗传异质性的脑发育异常综合征。 临床表型多样，主要特点为颅脑磁共振成像 (MRI)或CT上有独特的"臼齿征"、发育迟缓和一系列神经体征 [1]，OMIM (Online Mendelian Inheritance in Man)数据库中目前已有37个致病基因被报道 [2]。 根据合并的非神经系统其他器官的功能障碍延伸出了JBTS相关谱系疾病，Romani等 [3] 建议采用经典术语"Joubert综合征"，以涵盖所有与"臼齿征"相关的疾病以免出 …

2014年1月2日 · Here, we have identified biallelic truncating CSPP1 (centrosome and spindle pole associated protein 1) mutations in 19 JBTS-affected individuals, four of whom also have features of JATD. CSPP1 mutations explain ∼5% of JBTS in our cohort, and despite truncating mutations in all affected individuals, the range of phenotypic severity is broad.

Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the ...

2017年8月28日 · Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a domain near the...

Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like …

2024年1月14日 · All known JBTS-associated genes encode proteins involved in the function of antenna-like cellular organelle, primary cilium, which plays essential roles in cellular signal transduction and development. Here, we identified four unreported variants in ARL13B in two patients with the classical features of JBTS.

2010年1月19日 · 本文详细介绍了汇编语言中的各种条件跳转指令及其操作码，包括JO、JNO、JB、JNB等指令的功能与使用场景，并针对不同的芯片型号（如8086、386）和位数（16位、32位）提供了具体的操作码及应用说明。 根据www.olanguage.org提供的汇编资料整理. 文章浏览阅读9.4w次，点赞29次，收藏129次。 本文详细介绍了汇编语言中的各种条件跳转指令及其操作码，包括JO、JNO、JB、JNB等指令的功能与使用场景，并针对不同的芯片型号（如8086、386） …