Published in Am J Hum Genet on April 14, 2011
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax (2011) 2.80
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Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet (2012) 1.78
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.60
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.48
DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet (2013) 1.44
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet (2013) 1.43
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat (2013) 1.31
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet (2013) 1.21
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet (2013) 1.17
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet (2013) 1.17
Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr (2012) 1.14
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med (2014) 1.14
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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet (2013) 1.08
Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. PLoS One (2012) 1.02
Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. Asian J Androl (2013) 1.00
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet (2014) 0.98
Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility. Proc Natl Acad Sci U S A (2013) 0.94
From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula. Ann Hum Genet (2012) 0.94
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The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Ann Am Thorac Soc (2014) 0.87
Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear translocation impairment in HIV-1 replication. Virology (2011) 0.86
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Integrated control of axonemal dynein AAA(+) motors. J Struct Biol (2012) 0.86
Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Development (2014) 0.86
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000Prime Rep (2015) 0.86
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am J Hum Genet (2015) 0.84
A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome. Med Mol Morphol (2014) 0.83
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet (2014) 0.83
Primary ciliary dyskinesia. Semin Respir Crit Care Med (2015) 0.82
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet (2015) 0.80
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. PLoS Genet (2014) 0.80
Functional architecture of the outer arm dynein conformational switch. J Biol Chem (2011) 0.78
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet (2016) 0.77
Axonemal dynein light chain-1 locates at the microtubule-binding domain of the γ heavy chain. Mol Biol Cell (2015) 0.77
Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients. PLoS One (2014) 0.77
Current technology in the diagnosis of developmentally related lung disorders. Neonatology (2012) 0.76
The evolving spectrum of ciliopathies and respiratory disease. Curr Opin Pediatr (2016) 0.75
Variation in DNAH1 may contribute to primary ciliary dyskinesia. BMC Med Genet (2015) 0.75
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DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Hum Mol Genet (2004) 2.63
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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet (2010) 2.25
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet (2010) 2.12
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet (2009) 2.07
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med (2006) 1.80
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet (2010) 1.65
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am J Hum Genet (2009) 1.65
Cilia multifunctional organelles at the center of vertebrate left-right asymmetry. Curr Top Dev Biol (2008) 1.52
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Am J Hum Genet (1998) 1.50
Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. J Med Genet (2005) 1.44
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LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. J Am Soc Nephrol (2008) 1.38
Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases. Cell Mol Life Sci (2005) 1.28
Light chain 1 from the Chlamydomonas outer dynein arm is a leucine-rich repeat protein associated with the motor domain of the gamma heavy chain. Biochemistry (1999) 1.27
Solution structure of a dynein motor domain associated light chain. Nat Struct Biol (2000) 1.23
Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia. Eur Respir J (2003) 1.19
An outer arm Dynein conformational switch is required for metachronal synchrony of motile cilia in planaria. Mol Biol Cell (2010) 1.16
Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. J Med Genet (2004) 1.12
Stuck in reverse: loss of LC1 in Trypanosoma brucei disrupts outer dynein arms and leads to reverse flagellar beat and backward movement. J Cell Sci (2007) 1.12
Kartagener's syndrome and the syndrome of immotile cilia. Hum Genet (1979) 1.11
Isolation of cilia from porcine tracheal epithelium and extraction of dynein arms. Cell Motil Cytoskeleton (1986) 1.10
DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration (2008) 1.09
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am J Med Genet A (2004) 1.08
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. Am J Respir Cell Mol Biol (2005) 1.08
An outer arm dynein light chain acts in a conformational switch for flagellar motility. J Cell Biol (2009) 1.05
Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics. Ann Med (2005) 1.05
Partially functional outer-arm dynein in a novel Chlamydomonas mutant expressing a truncated gamma heavy chain. Eukaryot Cell (2008) 0.95
Relaxation-based structure refinement and backbone molecular dynamics of the dynein motor domain-associated light chain. Biochemistry (2003) 0.94
KinSNP software for homozygosity mapping of disease genes using SNP microarrays. Hum Genomics (2010) 0.92
Optimal biopsy techniques in the diagnosis of primary ciliary dyskinesia. J Otolaryngol (2002) 0.90
Innate pulmonary immunity: cilia. Pediatr Pulmonol Suppl (2004) 0.84
Phytophthora nicotianae transformants lacking dynein light chain 1 produce non-flagellate zoospores. Fungal Genet Biol (2010) 0.82
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell (2007) 10.75
Genome-wide midrange transcription profiles reveal expression level relationships in human tissue specification. Bioinformatics (2004) 4.88
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med (2003) 4.43
Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet (2008) 4.35
Human Gene-Centric Databases at the Weizmann Institute of Science: GeneCards, UDB, CroW 21 and HORDE. Nucleic Acids Res (2003) 4.29
GeneCards 2002: towards a complete, object-oriented, human gene compendium. Bioinformatics (2002) 4.24
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A (2006) 4.16
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell (2011) 3.95
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell (2008) 3.17
Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med (2004) 3.15
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A (2004) 3.11
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc Natl Acad Sci U S A (2004) 3.01
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
GeneNote: whole genome expression profiles in normal human tissues. C R Biol (2004) 2.92
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Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet (2004) 2.67
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet (2002) 2.63
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome. Proc Natl Acad Sci U S A (2011) 2.44
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol (2007) 2.43
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A (2007) 2.36
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet (2006) 2.32
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology (2012) 2.21
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet (2009) 2.16
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A (2010) 2.09
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest (2008) 2.07
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet (2005) 2.04
An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes Dev (2011) 2.00
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet (2003) 1.98
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci U S A (2011) 1.87
The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype. Eur J Gastroenterol Hepatol (2008) 1.77
Multicenter cross-sectional study of nontuberculous mycobacterial infections among cystic fibrosis patients, Israel. Emerg Infect Dis (2008) 1.76
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet (2011) 1.74
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A (2002) 1.73
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest (2011) 1.69
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med (2002) 1.66
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet (2010) 1.65
Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am J Med Genet B Neuropsychiatr Genet (2005) 1.64
Myocilin glaucoma. Surv Ophthalmol (2002) 1.63
Primary intraosseous squamous cell carcinoma arising in an odontogenic cyst: a clinicopathologic analysis of 116 reported cases. J Oral Pathol Med (2011) 1.62
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PLoS Genet (2011) 1.49
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc Natl Acad Sci U S A (2008) 1.49
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A (2009) 1.47
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet (2008) 1.44
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Hum Mol Genet (2007) 1.44
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol (2003) 1.43
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem (2012) 1.42
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Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci (2006) 1.39
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. J Clin Invest (2008) 1.39
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet (2004) 1.36
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc Natl Acad Sci U S A (2012) 1.34
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet (2012) 1.33
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A (2011) 1.32
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A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol (2003) 1.30
Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol (2002) 1.28
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. Invest Ophthalmol Vis Sci (2007) 1.28
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Hum Mutat (2006) 1.27
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum Mol Genet (2013) 1.27
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Evaluation of FOXP2 as an autism susceptibility gene. Am J Med Genet (2002) 1.25
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet (2007) 1.25
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet (2008) 1.24
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Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends Mol Med (2004) 1.16
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Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet (2007) 1.16
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Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat Genet (2003) 1.12
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The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. Arch Ophthalmol (2002) 1.12
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Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. PLoS Genet (2012) 1.10
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Hum Mol Genet (2010) 1.10
TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. Invest Ophthalmol Vis Sci (2012) 1.09
Performance of cochlear implant recipients with GJB2-related deafness. Am J Med Genet (2002) 1.09
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. J Cell Sci (2013) 1.08
Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. Nat Med (2012) 1.08
1274 full-open reading frames of transcripts expressed in the developing mouse nervous system. Genome Res (2004) 1.08
Longevity network: construction and implications. Mech Ageing Dev (2006) 1.07
No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol (2007) 1.06
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology (2003) 1.06
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet (2010) 1.04
Mice defective in Trpm6 show embryonic mortality and neural tube defects. Hum Mol Genet (2009) 1.04
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. Hum Mutat (2010) 1.04
O-linked β-N-acetylglucosaminylation (O-GlcNAcylation) in primary and metastatic colorectal cancer clones and effect of N-acetyl-β-D-glucosaminidase silencing on cell phenotype and transcriptome. J Biol Chem (2012) 1.04