Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.

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Signaling through the Primary Cilium.Network for Early Onset Cystic Kidney Diseases-A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood.

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Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.

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2017年学术文章

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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2-s2.0-85041954109

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Frontiers in pediatrics

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Meckel-Gruber Syndrome: An Upd ...... gement, and Research Advances.

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Colin A Johnson

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Katarzyna Szymanska

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Saghira Malik Sharif

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Verity Hartill

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Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

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

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

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

Gender roles and their influence on life prospects for women in urban Karachi, Pakistan: a qualitative study

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244

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scholarly article

review article

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10.3389/FPED.2017.00244

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Gabrielle Wheway

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28664088

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2017-11-20T00:00:00Z

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1092793532

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132192327

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29209597

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5701918

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