Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Large-scale targeted sequencin ...... ophthisis-related ciliopathies

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Large-scale targeted sequencin ...... ophthisis-related ciliopathies

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type

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label

Large-scale targeted sequencin ...... ophthisis-related ciliopathies

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Large-scale targeted sequencin ...... ophthisis-related ciliopathies

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Large-scale targeted sequencin ...... ophthisis-related ciliopathies

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Large-scale targeted sequencin ...... ophthisis-related ciliopathies

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P1476

Large-scale targeted sequencin ...... ophthisis-related ciliopathies

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P2093

Dan Doherty

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Friedhelm Hildebrandt

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Ian G Phelps

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Jan Halbritter

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Jennifer A Lawson

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Jonathan D Porath

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Markus Schueler

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Marwa M Nabhan

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Neveen A Soliman

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P2860

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

P304

208-214

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scholarly article

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10.1136/JMEDGENET-2015-103304

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English

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P478

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P577

2015-12-16T00:00:00Z

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26673778

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5057575

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