Citation Impact
Citing Papers
Bardet–Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
2004
Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels
2010 StandoutScienceNobel
Control of Regulatory T Cell Development by the Transcription Factor Foxp3
2003 StandoutScienceNobel
Complement Factor H Polymorphism and Age-Related Macular Degeneration
2005 StandoutScience
Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
2005 StandoutScience
The Talpid3 gene ( KIAA0586 ) encodes a centrosomal protein that is essential for primary cilia formation
2009
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
2001 Science
Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin
2002 Science
Reconstituting Organ-Level Lung Functions on a Chip
2010 StandoutScience
Complement Factor H Polymorphism in Age-Related Macular Degeneration
2005 StandoutScience
Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.
1990
Identification of a Novel Basic Helix-Loop-Helix–PAS Factor, NXF, Reveals a Sim2 Competitive, Positive Regulatory Role in Dendritic-Cytoskeleton Modulator Drebrin Gene Expression
2003
WGCNA: an R package for weighted correlation network analysis
2008 Standout
Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling
2010
Latrophilins Function as Heterophilic Cell-adhesion Molecules by Binding to Teneurins
2013 StandoutNobel
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H
2009
Genes responsible for human hereditary deafness: symphony of a thousand
1996
Gene Content and Function of the Ancestral Chromosome Fusion Site in Human Chromosome 2q13–2q14.1 and Paralogous Regions
2002
Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family
2005
Piecing together a ciliome
2006
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
1996 Standout
Structure and composition of drusen associated with glomerulonephritis: Implications for the role of complement activation in drusen biogenesis
2001
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
2003 Nature
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport
2006
Role for ELOVL3 and Fatty Acid Chain Length in Development of Hair and Skin Function
2004 StandoutNobel
Mutational Spectra of PTEN/MMAC1 Gene: a Tumor Suppressor With Lipid Phosphatase Activity
1999
The nonmotile ciliopathies
2009
Assembly of primary cilia
2008
Regulatory T Cells
2000 StandoutNobel
Searching for genetic determinants in the new millennium
2000 Nature
Testis-specific expression of a novel mouse defensin-like gene, Tdl
2002
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family
2003
Defensins: antimicrobial peptides of innate immunity
2003 Standout
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
2004
A Genomewide Scan for Age-Related Macular Degeneration Provides Evidence for Linkage to Several Chromosomal Regions
2003
Genetic factors of age-related macular degeneration
2004
Regulation of TIGR/MYOC gene expression in human trabecular meshwork cells
2000
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
2004
Dissection of epistasis in oligogenic Bardet–Biedl syndrome
2005 Nature
Bardet–Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function
2006
Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2
2003
A linkage map of mouse Chromosome 1 using an interspecific cross segregating for the gld autoimmunity mutation
1992
Age-Related Macular Degeneration: Etiology, Pathogenesis, and Therapeutic Strategies
2003
PTEN: One Gene, Many Syndromes
2003
Fox's in development and disease
2003
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
2001 StandoutNobel
Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations
1999
NEW EMBO MEMBER'S REVIEW: On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention
2002
Primary open-angle glaucoma
2004 Standout
A forkhead-domain gene is mutated in a severe speech and language disorder
2001 Nature
BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families
2005
Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci
2001
Age-Related Maculopathy: A Genomewide Scan with Continued Evidence of Susceptibility Loci within the 1q31, 10q26, and 17q25 Regions
2004
The Vertebrate Primary Cilium in Development, Homeostasis, and Disease
2009
A Novel Murine β-Defensin Expressed in Tongue, Esophagus, and Trachea
2000
α-Latrotoxin Receptor CIRL/Latrophilin 1 (CL1) Defines an Unusual Family of Ubiquitous G-protein-linked Receptors
1998 StandoutNobel
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
2004
Genetic influence on early age-related maculopathy
2002
Misfolded Proteins and Retinal Dystrophies
2009
Primary Open-Angle Glaucoma
2009
Retinitis pigmentosa
2006 Standout
Genetic Risk of Primary Open-angle Glaucoma
1998
Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component
2009
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Expansion of the eukaryotic proteome by alternative splicing
2010 StandoutNature
Cytokine gene polymorphism in human disease: on-line databases
1999
Mechanisms linking obesity to insulin resistance and type 2 diabetes
2006 StandoutNature
The CEPH Consortium Linkage Map of Human Chromosome 13
1993
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism
2006
Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A)
1998
High Affinity Neurexin Binding to Cell Adhesion G-protein-coupled Receptor CIRL1/Latrophilin-1 Produces an Intercellular Adhesion Complex
2012 StandoutNobel
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
2001 StandoutNobel
The photoreceptor cell-specific nuclear receptor gene ( PNR ) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
2000
The Fas Death Factor
1995 StandoutScience
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1
2005
Polycomb complexes repress developmental regulators in murine embryonic stem cells
2006 StandoutNature
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome
2003
A Whole-Genome Screen of a Quantitative Trait of Age-Related Maculopathy in Sibships from the Beaver Dam Eye Study
2003
Insights into social insects from the genome of the honeybee Apis mellifera
2006 StandoutNature
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B
1993
A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
2007 Standout
Ciliar functions in the nephron
2009
Chapter 13 Long‐Range Gene Control and Genetic Disease
2008
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
1997 StandoutNature
Widespread transcription at neuronal activity-regulated enhancers
2010 StandoutNature
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
2001
Atherosclerosis
2000 StandoutNature
The oligogenic properties of Bardet-Biedl syndrome
2004
A Defect in the Kv Channel-Interacting Protein 2 (KChIP2) Gene Leads to a Complete Loss of Ito and Confers Susceptibility to Ventricular Tachycardia
2001
Expression of Antimicrobial Defensins in the Male Reproductive Tract of Rats, Mice, and Humans1
2003
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
2001
Intraflagellar transport and the generation of dynamic, structurally and functionally diverse cilia
2009
Molecular evolution of FOXP2, a gene involved in speech and language
2002 StandoutNatureNobel
Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche
2009 StandoutNature
Myocilin Glaucoma
2002
The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy
2015 StandoutNature
Short-wavelength automated perimetry: it’s role in the clinic and for understanding ganglion cell function
2000
The Human Condition—A Molecular Approach
2014 StandoutNobel
Age-related Macular Degeneration
1998
Spatial partitioning of the regulatory landscape of the X-inactivation centre
2012 StandoutNature
The primary cilium: a signalling centre during vertebrate development
2010 Standout
Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular Degeneration
2004
Genetics of body-weight regulation
2000 Nature
Scurfin (FOXP3) Acts as a Repressor of Transcription and Regulates T Cell Activation
2001 StandoutNobel
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
2007
Interleukin-1 polymorphisms associated with increased risk of gastric cancer
2000 StandoutNature
The Ciliopathies: An Emerging Class of Human Genetic Disorders
2006
Latest Advances in Understanding Preeclampsia
2005 StandoutScience
Expression of the glaucoma gene myocilin ( MYOC ) in the human optic nerve head
2001
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Protein transport across the lung epithelial barrier
2003
Programmed assembly of 3-dimensional microtissues with defined cellular connectivity
2009 StandoutNobel
Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene
2004 StandoutNobel
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
1999
Genetics of obesity
2006
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
2005
The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation
2011 StandoutScience
Functional redundancy of cryptochromes and classical photoreceptors for nonvisual ocular photoreception in mice
2000 StandoutNobel
Making sense of cilia in disease: The human ciliopathies
2009
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Human gastric cathepsin E gene. Multiple transcripts result from alternative polyadenylation of the primary transcripts of a single gene locus at 1q31-q32.
1992
Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans.
1991 StandoutNobel
Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus
1995 StandoutScience
Bardet–Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
2008
Molecular Genetics of Human Retinal Disease
1999
Fibulin-1C and Fibulin-1D splice variants have distinct functions and assemble in a hemicentin-dependent manner
2005
The Pathophysiology and Treatment of Glaucoma
2014 Standout
Current View: Intestinal Stem Cells and Signaling
2008
STEM CELL NICHE: Structure and Function
2005
Coexistence of Quiescent and Active Adult Stem Cells in Mammals
2010 StandoutScience
Gut hormone PYY3-36 physiologically inhibits food intake
2002 StandoutNature
Ftm is a novel basal body protein of cilia involved in Shh signalling
2007
Early onset of neoplasia in the prostate and skin of mice with tissue-specific deletion of Pten
2004 StandoutNobel
Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease
1993 StandoutScience
Weighted gene coexpression network analysis strategies applied to mouse weight
2007
Works of Darryl Nishimura being referenced
CEPH(ヒト多形性研究センター)共同製作ヒト1番染色体連鎖地図
1991
Linkage localization of Börjeson‐Forssman‐Lehmann syndrome
1989
A detailed multipoint gene map of chromosome 1q
1990
Expression of theMf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects
1999
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification
1996
A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye
2001
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
1995
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
1998
A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1
1998
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome
2008
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
2001
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
2002
Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene
2005
Linkage Localization of TGFB2 and the Human Homeobox Gene HLX1 to Chromosome 1q
1993
Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)
2004
Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome
2005
MspI RFLP for SNRNPE gene on lq
1989
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
1999
Bbs2 -null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
2004
A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
2007
Loss of Bardet–Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia
2008
Molecular Cloning and Characterization of Rat Genes Encoding Homologues of Human β-Defensins
1999
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq
1990
Homozygosity mapping with SNP arrays identifiesTRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)
2006
Identification of a Gene That Causes Primary Open Angle Glaucoma
1997 Science