|
Ciliopathies
|
0.100 |
Biomarker
|
disease |
BEFREE |
As a core protein of IFT complex A, IFT140 has been shown to have a relationship with serious skeletal ciliopathies caused in humans.
|
31034313 |
2019 |
|
Ciliopathies
|
0.100 |
Biomarker
|
disease |
BEFREE |
Variants IFT140 have been reported to account for ciliopathy but association with male fertility has never been described in humans.
|
31397098 |
2019 |
|
Ciliopathies
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in IFT140 have been associated with cases of skeletal ciliopathies.
|
31238004 |
2019 |
|
Ciliopathies
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of Ift140 are usually associated with syndromic ciliopathy and may cause isolated diseases such as retinal dystrophy, short ribs, and polycystic kidney.
|
29195058 |
2018 |
|
Ciliopathies
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, trio whole-exome sequencing of a prospectively identified nephronophthisis (NPHP) proband and her parents identified compound-heterozygous variants in IFT140, a gene previously associated with NPHP-related ciliopathies.
|
29706353 |
2018 |
|
Ciliopathies
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using whole-genome sequencing in patients with uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27-30 (6.7 kb) in IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole-exome sequencing.
|
29688594 |
2018 |
|
Ciliopathies
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
|
27874174 |
2017 |
|
Ciliopathies
|
0.100 |
Biomarker
|
disease |
BEFREE |
Intersection of the proband's phenotypes with known disease genes within the homozygous region yielded a single candidate, IFT140, encoding a retrograde intraflagellar transport protein implicated previously in several ciliopathies, including the phenotypically overlapping Mainzer-Saldino syndrome (MZSDS).
|
28724397 |
2017 |
|
Ciliopathies
|
0.100 |
Biomarker
|
disease |
BEFREE |
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
|
26359340 |
2016 |
|
Ciliopathies
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ciliary transporter gene IFT140, usually associated with a severe syndromic ciliopathy, may also cause isolated retinal dystrophy.
|
26968735 |
2016 |
|
Ciliopathies
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome.
|
24698627 |
2014 |
|
Ciliopathies
|
0.100 |
Biomarker
|
disease |
BEFREE |
The present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy.
|
23418020 |
2013 |
|
Ciliopathies
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
|
24009529 |
2013 |