Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Schwere Kette 1 des zytoplasmatischen Dyneins

Das DYNC2H1-Gen kodiert ein Dynein, welches für den intraflagellären Transport verantwortlich ist. Mutationen verursachen das autosomal rezessive oder digenisch rezessive SRTD-Syndrom 3.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Asphyxierende Thoraxdyplasie 03
DYNC2H1

Referenzen:

1.

Merrill AE et al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

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2.

Schmidt H et al. (2015) Structure of human cytoplasmic dynein-2 primed for its power stroke.

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3.

Ocbina PJ et al. (2011) Complex interactions between genes controlling trafficking in primary cilia.

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4.

Pazour GJ et al. (2006) Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.

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5.

Criswell PS et al. (1998) Evidence for four cytoplasmic dynein heavy chain isoforms in rat testis.

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6.

Kastury K et al. (1997) Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.

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7.

Criswell PS et al. (1996) A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells.

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8.

Vaughan KT et al. (1996) Multiple mouse chromosomal loci for dynein-based motility.

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9.

Vaisberg EA et al. (1996) Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles.

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10.

Gibbons BH et al. (1994) Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins.

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11.

Schmidts M et al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

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12.

Thiel C et al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

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13.

Dagoneau N et al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

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14.

El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

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15.

NCBI article

NCBI 79659 external link
16.

OMIM.ORG article

Omim 603297 external link
17.

Orphanet article

Orphanet ID 183938 external link
Update: 14. August 2020
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