Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that loss of KBP function leads to defects in neuronal migration, morphogenesis, maturation, and survival, which may be responsible for brain phenotypes observed in GOSHS.
|
31736709 |
2019 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
|
28277559 |
2017 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
|
28277559 |
2017 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
MGD |
Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death.
|
29192291 |
2017 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
|
28277559 |
2017 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
BEFREE |
We hypothesize that an axonal sensory motor neuropathy may be part of the phenotypical spectrum of KIAA1279-related GOSHS, probably reflecting the effects of reduced KBP protein expression on peripheral neuronal function.
|
25846562 |
2015 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Goldberg-Shprintzen syndrome and the Say-Barber-Biesecker-Young-Simpson type of Ohdo syndrome were suspected but direct sequencing of KBP and KAT6B failed to identify a mutation.
|
24715367 |
2014 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
AlteredExpression
|
disease |
BEFREE |
KBP expression directly affected neurite growth in a neuron-like cell line (human neuroblastoma SH-SY5Y), in keeping with the central (polymicrogyria) and enteric (HSCR) neuronal developmental defects seen in GOSHS patients.
|
23427148 |
2013 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
GermlineCausalMutation
|
disease |
ORPHANET |
KBP expression directly affected neurite growth in a neuron-like cell line (human neuroblastoma SH-SY5Y), in keeping with the central (polymicrogyria) and enteric (HSCR) neuronal developmental defects seen in GOSHS patients.
|
23427148 |
2013 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
BEFREE |
Recently, we found that KBP, encoded by the gene involved in a HSCR- associated syndrome called Goldberg-Shprintzen syndrome, interacts with SCG10, a stathmin-like protein.
|
21187955 |
2010 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
BEFREE |
Thus, our data indicate that KBP is involved in neuronal differentiation and that the central and enteric nervous system defects seen in GOSHS are likely caused by microtubule-related defects.
|
20621975 |
2010 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
CTD_human |
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
|
15883926 |
2005 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
GermlineCausalMutation
|
disease |
ORPHANET |
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
|
15883926 |
2005 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
|
15883926 |
2005 |
Goldberg-Shprintzen megacolon syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hirschsprung megacolon and cleft palate in two sibs.
|
7338549 |
1981 |