Published in Hum Genet on January 03, 2006
A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. Genesis (2007) 1.22
Identification of the nuclear localization signal of SALL4B, a stem cell transcription factor. Cell Cycle (2014) 0.84
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Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. J Med Genet (2004) 1.15
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat (2005) 1.11
SALL1 mutations in Townes-Brocks syndrome and related disorders. Hum Mutat (2000) 1.07
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SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet (2004) 0.92
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Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. Clin Dysmorphol (2003) 0.82
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. Am J Med Genet (2001) 0.82
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum (2010) 2.50
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet (2003) 2.01
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat (2009) 1.85
Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis. PLoS Genet (2012) 1.69
Neuropsychiatric lupus syndromes: relationship with antiphospholipid antibodies. Neurology (2003) 1.65
A single-nucleotide polymorphism in the human beta-defensin 1 gene is associated with HIV-1 infection in Italian children. AIDS (2004) 1.59
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int (2011) 1.56
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat (2009) 1.55
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat (2005) 1.47
Secreted protein acidic and rich in cysteine (SPARC) gene polymorphism association with hepatocellular carcinoma in Italian patients. J Gastroenterol Hepatol (2009) 1.42
Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci. Am J Hum Genet (2006) 1.41
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol (2006) 1.39
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat (2011) 1.36
Defective intracellular trafficking of uromodulin mutant isoforms. Traffic (2006) 1.31
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet (2003) 1.25
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis (2004) 1.23
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant (2009) 1.20
Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma. N Engl J Med (2006) 1.16
Antiphospholipid antibodies and renal involvement. Am J Nephrol (2009) 1.15
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet (2005) 1.15
Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients. Am J Med Genet A (2010) 1.12
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am J Hum Genet (2009) 1.11
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol (2006) 1.10
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A (2010) 1.09
Multicenter study on hepatitis C virus-related cryoglobulinemic glomerulonephritis. Am J Kidney Dis (2007) 1.08
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. Eur J Hum Genet (2007) 1.06
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat (2005) 1.05
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry A (2008) 1.04
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab (2007) 1.02
Thrombosis in systemic lupus erythematosus: congenital and acquired risk factors. Arthritis Rheum (2005) 1.02
Menstrual pattern and menstrual disorders among adolescents: an update of the Italian data. Ital J Pediatr (2012) 1.02
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat (2007) 1.01
Antimicrobial and immunoregulatory functions of lactoferrin and its potential therapeutic application. J Endotoxin Res (2002) 1.00
Thrombosis in nephrotic syndrome. Semin Thromb Hemost (2013) 1.00
Osteopontin gene haplotypes correlate with multiple sclerosis development and progression. J Neuroimmunol (2005) 0.99
Sall1, sall2, and sall4 are required for neural tube closure in mice. Am J Pathol (2008) 0.99
Update on age at menarche in Italy: toward the leveling off of the secular trend. J Adolesc Health (2009) 0.99
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study. Croat Med J (2013) 0.98
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet (2008) 0.98
Beta-defensin 1 gene variability among non-human primates. Immunogenetics (2002) 0.98
Adipokines and systemic lupus erythematosus: relationship with metabolic syndrome and cardiovascular disease risk factors. J Rheumatol (2009) 0.98
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat (2006) 0.97
Anti-lactoferrin antibodies in systemic lupus erythematosus: isotypes and clinical correlates. Clin Rheumatol (2004) 0.97
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet (2011) 0.94
A study of host defence peptide beta-defensin 3 in primates. Biochem J (2003) 0.94
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genet Med (2007) 0.94
Frequency of the HFE gene mutations in five Italian populations. Blood Cells Mol Dis (2003) 0.93
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat (2006) 0.93
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum Genet (2014) 0.93
Hypercoagulability and nephrotic syndrome. Curr Vasc Pharmacol (2014) 0.93
Structural and functional characterization of hBD-1(Ser35), a peptide deduced from a DEFB1 polymorphism. Biochem Biophys Res Commun (2002) 0.92
Effects of maturation on RNA transcription and protein expression of four MRP genes in human placenta and in BeWo cells. Biochem Biophys Res Commun (2003) 0.92
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet (2011) 0.92
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. BMC Med Genet (2008) 0.92
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet (2009) 0.92
Dynamic behavior of avian influenza A virus neuraminidase subtype H5N1 in complex with oseltamivir, zanamivir, peramivir, and their phosphonate analogues. J Chem Inf Model (2009) 0.91
Structure-based design of inhibitors of NS3 serine protease of hepatitis C virus. J Mol Graph Model (2004) 0.91
The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord (2005) 0.91
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat (2011) 0.91
Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression. Biochem Biophys Res Commun (2007) 0.90
A novel human tectonin protein with multivalent beta-propeller folds interacts with ficolin and binds bacterial LPS. PLoS One (2009) 0.90
Rational design of green fluorescent protein mutants as biosensor for bacterial endotoxin. Protein Eng (2002) 0.89
IgA nephropathy: the presence of familial disease does not confer an increased risk for progression. Am J Kidney Dis (2006) 0.89
The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. Am J Med Genet A (2008) 0.88
Human mesenchymal stem cell-derived microvesicles modulate T cell response to islet antigen glutamic acid decarboxylase in patients with type 1 diabetes. Diabetologia (2014) 0.88
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. Am J Med Genet A (2006) 0.88
Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study. Eur J Hum Genet (2006) 0.88
Linkage and linkage disequilibrium analysis of X-STRs in Italian families. Forensic Sci Int Genet (2010) 0.87
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. J Med Genet (2013) 0.87
A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. J Dermatol Sci (2008) 0.87
Sall4 isoforms act during proximal-distal and anterior-posterior axis formation in the mouse embryo. Genesis (2008) 0.87
Primary hyperoxaluria: genotype-phenotype correlation. J Nephrol (2003) 0.87
OMiR: Identification of associations between OMIM diseases and microRNAs. Genomics (2010) 0.87
An emerging 1q21.1 deletion-associated neurodevelopmental phenotype. J Child Neurol (2011) 0.87
Epidermolysis bullosa simplex ogna revisited. J Invest Dermatol (2012) 0.87
Structure and energetics of biocompatible polymer nanocomposite systems: a molecular dynamics study. Biomacromolecules (2006) 0.86
Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy. J Nephrol (2009) 0.86
SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway. Biochem Biophys Res Commun (2006) 0.86
Evaluation of Chronic Kidney Disease Epidemiology Collaboration equation to estimate glomerular filtration rate in scleroderma patients. Rheumatology (Oxford) (2012) 0.85
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. Eur J Med Genet (2012) 0.85
N-acetylcysteine infusion reduces the resistance index of renal artery in the early stage of systemic sclerosis. Acta Pharmacol Sin (2009) 0.85
Acute comitant esotropia secondary to idiopathic intracranial hypertension in a child receiving recombinant human growth hormone. Can J Ophthalmol (2009) 0.85
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. Hum Mutat (2007) 0.85
An in vitro model of T cell receptor revision in mature human CD8+ T cells. Mol Immunol (2007) 0.84
Intracerebral hemorrhage in a young man. CMAJ (2010) 0.84
The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait. BMC Nephrol (2005) 0.84
Molecular interfaces of the galactose-binding protein Tectonin domains in host-pathogen interaction. J Biol Chem (2010) 0.84
Tetra-amelia and lung hypo/aplasia syndrome: new case report and review. Am J Med Genet A (2008) 0.83