Published in Hum Mol Genet on August 01, 1999
The tripartite motif family identifies cell compartments. EMBO J (2001) 9.64
Trim5alpha protein restricts both HIV-1 and murine leukemia virus. Proc Natl Acad Sci U S A (2004) 5.31
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TRIM E3 ligases interfere with early and late stages of the retroviral life cycle. PLoS Pathog (2008) 2.05
Regulation of microtubule dynamics and myogenic differentiation by MURF, a striated muscle RING-finger protein. J Cell Biol (2000) 1.45
Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. Hum Genet (2004) 1.12
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The MID1 E3 ligase catalyzes the polyubiquitination of Alpha4 (α4), a regulatory subunit of protein phosphatase 2A (PP2A): novel insights into MID1-mediated regulation of PP2A. J Biol Chem (2013) 0.84
MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac. PLoS One (2014) 0.81
X-linked microtubule-associated protein, Mid1, regulates axon development. Proc Natl Acad Sci U S A (2013) 0.78
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome. Mol Genet Genomic Med (2015) 0.75
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A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature (1991) 8.22
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell (1998) 4.41
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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature (1991) 3.59
Characterization of a murine gene expressed from the inactive X chromosome. Nature (1991) 3.21
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
The UTX gene escapes X inactivation in mice and humans. Hum Mol Genet (1998) 2.91
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X-linked situs abnormalities result from mutations in ZIC3. Nat Genet (1997) 2.62
Localization of the X inactivation centre on the human X chromosome in Xq13. Nature (1991) 2.48
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Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nat Genet (1995) 2.10
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet (2000) 2.08
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Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet (1999) 1.65
Alternative splicing in the human gene for the core protein A1 generates another hnRNP protein. EMBO J (1990) 1.65
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A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet (1998) 1.50
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet (1999) 1.50
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A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology (2000) 1.45
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Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Hum Mol Genet (2005) 1.40
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet (1994) 1.40
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet (2000) 1.39
Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development. Mech Dev (1999) 1.39
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A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology (2004) 1.33
EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet (1999) 1.32
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LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet (1999) 1.29
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sci U S A (1996) 1.28
Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus. Proc Natl Acad Sci U S A (1997) 1.28
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Am J Hum Genet (1999) 1.26
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A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet (1998) 1.25
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor. EMBO J (1997) 1.25
The sulfatase gene family. Curr Opin Genet Dev (1997) 1.25
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet (1998) 1.24
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. Proc Natl Acad Sci U S A (1999) 1.24
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet (1996) 1.24
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics (1998) 1.23
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol (1999) 1.23
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet (1999) 1.23
Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Hum Mol Genet (1999) 1.22
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet (1996) 1.21
Effects of high-dose IgG on survival of surgical patients with sepsis scores of 20 or greater. Arch Surg (1991) 1.19
Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am J Hum Genet (1990) 1.19
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics (1998) 1.16
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. Ann Neurol (1999) 1.16
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Hum Mol Genet (2000) 1.15
Human hnRNP protein A1 gene expression. Structural and functional characterization of the promoter. J Mol Biol (1993) 1.14
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. Clin Genet (2011) 1.14
Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. Proc Natl Acad Sci U S A (2001) 1.13
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet (2001) 1.13
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. J Med Genet (2008) 1.13
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet (1999) 1.12