Kategorie:
Ziliopathien
PubID
Gen
MIM
25361962 A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
CEP120
26167768 Nat Cell Biol. 2015: identification of regulators of ciliogenesis and ciliopathy genes
CFAP410
26220823 Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.
DPH1
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
DYNC2H1
26077881 Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
DYNC2LI1
EVC
EVC2
29068549 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
FUZ
27466187 Hum Mol Genet. 2016: short rib-polydactyly syndrome
ICK
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
IFT122
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
IFT140
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
IFT172
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
IFT43
27466190 Hum Mol Genet. 2016: polydactyly syndrome
IFT52
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
IFT80
27666822 Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.
IFT81
27158779 Nat Genet. 2016: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
INTU
26166481 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 29138412 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
KIAA0586
29138412 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
KIAA0753
29068549 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
LBR
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
NEK1
26044572 TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
TCTEX1D2
29068549 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
TRAF3IP1
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
TTC21B
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
WDR19
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
WDR34
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
WDR35
25506500 Clinical genetics and pathobiology of ciliary chondrodysplasias.
WDR60