Published in Nat Genet on November 01, 2000
Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol (2002) 6.38
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev (2010) 4.95
Diseases of the nuclear envelope. Cold Spring Harb Perspect Biol (2010) 2.12
Achalasia--a disease of unknown cause that is often diagnosed too late. Dtsch Arztebl Int (2012) 2.01
The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci U S A (2003) 2.01
Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane. Proc Natl Acad Sci U S A (2001) 1.79
The WD-repeat protein superfamily in Arabidopsis: conservation and divergence in structure and function. BMC Genomics (2003) 1.73
Identification and characterization of nuclear pore complex components in Arabidopsis thaliana. Plant Cell (2010) 1.59
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet (2016) 1.44
Achalasia: will genetic studies provide insights? Hum Genet (2010) 1.30
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmol (2004) 1.18
Neurological features in adult Triple-A (Allgrove) syndrome. J Neurol (2011) 1.14
ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome. Proc Natl Acad Sci U S A (2006) 1.02
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol (2006) 0.99
Genetic evaluation of ALADIN gene in early-onset achalasia and alacrima patients. J Neurogastroenterol Motil (2011) 0.96
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. Eur J Pediatr (2012) 0.94
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East. Orphanet J Rare Dis (2012) 0.91
Idiopathic (primary) achalasia: a review. Orphanet J Rare Dis (2015) 0.90
Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. Exp Mol Med (2009) 0.90
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet (2013) 0.88
Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation. Eur J Pediatr (2008) 0.88
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet (2016) 0.87
Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis. PLoS One (2015) 0.85
Regulation of the adrenocortical stem cell niche: implications for disease. Nat Rev Endocrinol (2014) 0.84
Tracing the origin of functional and conserved domains in the human proteome: implications for protein evolution at the modular level. BMC Evol Biol (2006) 0.82
Non-surgical treatment of esophageal achalasia. World J Gastroenterol (2006) 0.81
Wernicke's encephalopathy in a patient with triple A (Allgrove) syndrome. J Neurol (2011) 0.80
Triple A (Allgrove) syndrome: an unusual association with syringomyelia. Ital J Pediatr (2013) 0.79
Family case of achalasia cardia: case report and review of literature. World J Gastroenterol (2014) 0.79
Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome. Eur J Pediatr (2008) 0.78
Longitudinal neuropsychological profile in a patient with triple a syndrome. Case Rep Pediatr (2013) 0.77
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur J Pediatr (2010) 0.77
Decreased Expression of a Gene Caused by a T-DNA Insertion in an Adjacent Gene in Arabidopsis. PLoS One (2016) 0.76
[Motility disorders of the esophagus]. Pathologe (2013) 0.76
A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene. Clin Pediatr Endocrinol (2012) 0.75
Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years. World J Gastroenterol (2016) 0.75
Triple A syndrome: two novel mutations in the AAAS gene. BMJ Case Rep (2009) 0.75
Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia. Sci Rep (2016) 0.75
From Bioinactive ACTH to ACTH Antagonist: The Clinical Perspective. Front Endocrinol (Lausanne) (2017) 0.75
The small, spastic, and furrowed tongue of Allgrove syndrome. Neurology (2009) 0.75
Mutations of the AAAS gene in an Indian family with Allgrove's syndrome. World J Gastroenterol (2006) 0.75
Identification of a novel putative interaction partner of the nucleoporin ALADIN. Biol Open (2016) 0.75
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. Horm Res Paediatr (2016) 0.75
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy. Neural Plast (2017) 0.75
Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology. Osteoporos Int (2015) 0.75
ALADIN is Required for the Production of Fertile Mouse Oocytes. Mol Biol Cell (2017) 0.75
Unusual presentation of triple A syndrome mimicking Sjögren's syndrome. Clin Rheumatol (2006) 0.75
Triple-a syndrome: a rare etiology of adult achalasia. Dig Dis Sci (2005) 0.75
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61
An STS-based map of the human genome. Science (1995) 17.72
The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64
Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence. Nat Genet (2000) 14.51
A gene map of the human genome. Science (1996) 14.32
A physical map of 30,000 human genes. Science (1998) 12.43
A physical map of the human genome. Nature (2001) 12.39
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging. Mamm Genome (1999) 9.96
The complete genome sequence of the lactic acid bacterium Lactococcus lactis ssp. lactis IL1403. Genome Res (2001) 8.63
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature (1996) 8.02
Genome sequence and gene compaction of the eukaryote parasite Encephalitozoon cuniculi. Nature (2001) 7.53
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med (1996) 6.57
Genome sequence of the plant pathogen Ralstonia solanacearum. Nature (2002) 6.23
Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology (2006) 5.67
Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature (1996) 5.44
Mechanisms of evolution in Rickettsia conorii and R. prowazekii. Science (2001) 5.32
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta (1994) 4.93
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet (1997) 4.92
A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64
EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet (2000) 4.48
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet (1997) 4.26
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet (2001) 4.15
Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet (1999) 3.93
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet (2001) 3.86
BISANCE: a French service for access to biomolecular sequence databases. Comput Appl Biosci (1990) 3.84
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
Genomic exploration of the hemiascomycetous yeasts: 1. A set of yeast species for molecular evolution studies. FEBS Lett (2000) 3.71
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet (1997) 3.68
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature (2000) 3.61
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50
A first-generation physical map of the human genome. Nature (1993) 3.40
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet (1997) 3.37
Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33
A method for constructing radiation hybrid maps of whole genomes. Nat Genet (1994) 3.19
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet (1999) 3.14
Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr (1997) 3.14
New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A (1998) 3.14
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet (1990) 3.12
The complete genome sequence of Lactobacillus bulgaricus reveals extensive and ongoing reductive evolution. Proc Natl Acad Sci U S A (2006) 3.11
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet (1995) 3.09
A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature (1986) 3.09
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet (1989) 2.98
Two interferon mRNAs in human fibroblasts: in vitro translation and Escherichia coli cloning studies. Proc Natl Acad Sci U S A (1980) 2.88
A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science (1985) 2.88
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet (1993) 2.79
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet (2001) 2.72
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology (2002) 2.53
Leber congenital amaurosis. Mol Genet Metab (1999) 2.52
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52
Role of base composition in the electrophoresis of microbial and crab DNA in polyacrylamide gels. Nat New Biol (1972) 2.48
[Primary structure of transfer RNA]. Biochimie (1972) 2.43
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet (2009) 2.37
Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet (1998) 2.30
Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet (1996) 2.29
The beta2-microglobulin mRNA in human Daudi cells has a mutated initiation codon but is still inducible by interferon. EMBO J (1983) 2.28
Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet (1990) 2.26
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet (2005) 2.24
A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet (1994) 2.22
Molecular changes in the polymerase genes (PA and PB1) associated with high pathogenicity of H5N1 influenza virus in mallard ducks. J Virol (2007) 2.20
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet (1999) 2.18
Sequence and analysis of chromosome 3 of the plant Arabidopsis thaliana. Nature (2000) 2.17
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology (2000) 2.16