Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
We report three cases with MCTO and two novel MAFB mutations.
|
30208859 |
2018 |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.
|
30430035 |
2018 |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
|
27181683 |
2016 |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
We PCR-amplified and selectively sequenced the MAFB region that contains the transactivation domain in this 323 amino acid protein, where mutations were previously reported for MCTO.
|
24989131 |
2014 |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Recently, heterozygous missense mutations in the V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB) gene have been causally related to MCTO patients in 13 unrelated families investigated.
|
23670161 |
2013 |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
Biomarker
|
disease |
BEFREE |
We report here the molecular screening of MAFB in eight MCTO patients from six families.
|
23956186 |
2013 |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recently, heterozygous missense mutations in the V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB) gene have been causally related to MCTO patients in 13 unrelated families investigated.
|
23670161 |
2013 |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
|
22387013 |
2012 |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
|
22387013 |
2012 |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
Duane Retraction Syndrome
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.
|
29779709 |
2018 |
Duane Retraction Syndrome
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness.
|
27181683 |
2016 |
Duane Retraction Syndrome
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness.
|
27181683 |
2016 |
Duane Retraction Syndrome
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
Duane Retraction Syndrome
|
0.720 |
Biomarker
|
disease |
MGD |
|
|
|
Duane Retraction Syndrome, Type 2
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
|
27181683 |
2016 |
Type 1 Duane Retraction Syndrome
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
|
27181683 |
2016 |
Duane Retraction Syndrome, Type 2
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
Type 1 Duane Retraction Syndrome
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cleft upper lip
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.
|
20436469 |
2010 |
Cleft upper lip
|
0.310 |
Biomarker
|
disease |
CTD_human |
SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.
|
20436469 |
2010 |
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.
|
23670161 |
2013 |
Duane Retraction Syndrome, Type 3
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Okihiro Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|