메뉴 건너뛰기




Volumn 22, Issue 7, 2011, Pages 286-293

Molecular basis of the obesity associated with Bardet-Biedl syndrome

Author keywords

[No Author keywords available]

Indexed keywords

BBS1 PROTEIN; BBS10 PROTEIN; BBS11 PROTEIN; BBS12 PROTEIN; BBS13 PROTEIN; BBS14 PROTEIN; BBS15 PROTEIN; BBS2 PROTEIN; BBS3 PROTEIN; BBS4 PROTEIN; BBS5 PROTEIN; BBS6 PROTEIN; BBS7 PROTEIN; BBS8 PROTEIN; BBS9 PROTEIN; CHAPERONIN; GUANINE NUCLEOTIDE BINDING PROTEIN; LEPTIN; MELANIN CONCENTRATING HORMONE RECEPTOR 1; MELANOCORTIN 4 RECEPTOR; NEUROPEPTIDE Y; PROTEIN; STAT3 PROTEIN; SUPPRESSOR OF CYTOKINE SIGNALING 3; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG;

EID: 79959874896     PISSN: 10432760     EISSN: 18793061     Source Type: Journal    
DOI: 10.1016/j.tem.2011.02.009     Document Type: Review
Times cited : (80)

References (86)
  • 1
    • 79959869638 scopus 로고
    • Sur Un Syndrome D'obesité Infantile Avec Polydactylie et Rétinite Pigmentaire (Contribution à l'Étude des Formes Cliniques de l'Obesité Hypophysaire), Thesis 470, University of Paris.
    • Bardet, G. (1920) Sur Un Syndrome D'obesité Infantile Avec Polydactylie et Rétinite Pigmentaire (Contribution à l'Étude des Formes Cliniques de l'Obesité Hypophysaire), Thesis 470, University of Paris.
    • (1920)
    • Bardet, G.1
  • 2
    • 0024472754 scopus 로고
    • The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
    • Green J.S., et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N. Engl. J. Med. 1989, 321:1002-1009.
    • (1989) N. Engl. J. Med. , vol.321 , pp. 1002-1009
    • Green, J.S.1
  • 3
    • 0023789504 scopus 로고
    • The spectrum of renal disease in Laurence-Moon-Biedl syndrome
    • Harnett J.D., et al. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N. Engl. J. Med. 1988, 319:615-618.
    • (1988) N. Engl. J. Med. , vol.319 , pp. 615-618
    • Harnett, J.D.1
  • 4
    • 0027963165 scopus 로고
    • Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients
    • Elbedour K., et al. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am. J. Med. Genet. 1994, 52:164-169.
    • (1994) Am. J. Med. Genet. , vol.52 , pp. 164-169
    • Elbedour, K.1
  • 5
    • 33749054088 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport
    • Blacque O.E., Leroux M.R. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell. Mol. Life Sci. 2006, 63:2145-2161.
    • (2006) Cell. Mol. Life Sci. , vol.63 , pp. 2145-2161
    • Blacque, O.E.1    Leroux, M.R.2
  • 6
    • 65649147891 scopus 로고    scopus 로고
    • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
    • Zaghloul N.A., Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J. Clin. Invest. 2009, 119:428-437.
    • (2009) J. Clin. Invest. , vol.119 , pp. 428-437
    • Zaghloul, N.A.1    Katsanis, N.2
  • 7
    • 41349103272 scopus 로고    scopus 로고
    • Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
    • Leitch C.C., et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat. Genet. 2008, 40:443-448.
    • (2008) Nat. Genet. , vol.40 , pp. 443-448
    • Leitch, C.C.1
  • 8
    • 33846646986 scopus 로고    scopus 로고
    • The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
    • Dawe H.R., et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet. 2007, 16:173-186.
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 173-186
    • Dawe, H.R.1
  • 9
    • 33744757686 scopus 로고    scopus 로고
    • In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
    • Chang B., et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum. Mol. Genet. 2006, 15:1847-1857.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 1847-1857
    • Chang, B.1
  • 10
    • 77956505731 scopus 로고    scopus 로고
    • Planar cell polarity acts through septins to control collective cell movement and ciliogenesis
    • Kim S.K., et al. Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science 2010, 329:1337-1340.
    • (2010) Science , vol.329 , pp. 1337-1340
    • Kim, S.K.1
  • 11
    • 0041308085 scopus 로고    scopus 로고
    • Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
    • Badano J.L., et al. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum. Mol. Genet. 2003, 12:1651-1659.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1651-1659
    • Badano, J.L.1
  • 12
    • 0038744241 scopus 로고    scopus 로고
    • Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
    • Beales P.L., et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am. J. Hum. Genet. 2003, 72:1187-1199.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 1187-1199
    • Beales, P.L.1
  • 13
    • 0035929273 scopus 로고    scopus 로고
    • Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
    • Katsanis N., et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001, 293:2256-2259.
    • (2001) Science , vol.293 , pp. 2256-2259
    • Katsanis, N.1
  • 14
    • 1842579395 scopus 로고    scopus 로고
    • The oligogenic properties of Bardet-Biedl syndrome
    • Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum. Mol. Genet. 2004, 1:65-71.
    • (2004) Hum. Mol. Genet. , vol.1 , pp. 65-71
    • Katsanis, N.1
  • 15
    • 0037322689 scopus 로고    scopus 로고
    • Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
    • Mykytyn K., et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am. J. Hum. Genet. 2003, 72:429-437.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 429-437
    • Mykytyn, K.1
  • 16
    • 4444291840 scopus 로고    scopus 로고
    • Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
    • Fan Y., et al. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat. Genet. 2004, 36:989-993.
    • (2004) Nat. Genet. , vol.36 , pp. 989-993
    • Fan, Y.1
  • 17
    • 19944431708 scopus 로고    scopus 로고
    • Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study
    • Moore S.J., et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am. J. Med. Genet. Part A 2005, 132A:352-360.
    • (2005) Am. J. Med. Genet. Part A , vol.132 A , pp. 352-360
    • Moore, S.J.1
  • 18
    • 2442661479 scopus 로고    scopus 로고
    • Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome
    • Sheffield V.C. Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. Pediatr. Res. 2004, 55:908-911.
    • (2004) Pediatr. Res. , vol.55 , pp. 908-911
    • Sheffield, V.C.1
  • 19
    • 0028928596 scopus 로고
    • Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome
    • Croft J.B., et al. Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. Am. J. Med. Genet. 1995, 55:12-15.
    • (1995) Am. J. Med. Genet. , vol.55 , pp. 12-15
    • Croft, J.B.1
  • 20
    • 33748994054 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians
    • Benzinou M., et al. Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. Diabetes 2006, 55:2876-2882.
    • (2006) Diabetes , vol.55 , pp. 2876-2882
    • Benzinou, M.1
  • 21
    • 27944469172 scopus 로고    scopus 로고
    • An incredible decade for the primary cilium: a look at a once-forgotten organelle
    • Davenport J.R., Yoder B.K. An incredible decade for the primary cilium: a look at a once-forgotten organelle. Am. J. Physiol. Renal Physiol. 2005, 289:F1159-F1169.
    • (2005) Am. J. Physiol. Renal Physiol. , vol.289
    • Davenport, J.R.1    Yoder, B.K.2
  • 22
    • 33746891890 scopus 로고    scopus 로고
    • The primary cilium as the cell's antenna: signaling at a sensory organelle
    • Singla V., Reiter J.F. The primary cilium as the cell's antenna: signaling at a sensory organelle. Science 2006, 313:629-633.
    • (2006) Science , vol.313 , pp. 629-633
    • Singla, V.1    Reiter, J.F.2
  • 24
    • 2942625562 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
    • Mykytyn K., et al. Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc. Nat. Acad. Sci. U.S.A. 2004, 101:8664-8669.
    • (2004) Proc. Nat. Acad. Sci. U.S.A. , vol.101 , pp. 8664-8669
    • Mykytyn, K.1
  • 25
    • 2342501364 scopus 로고    scopus 로고
    • Comparative and basal genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
    • Li J.B., et al. Comparative and basal genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 2004, 117:541-552.
    • (2004) Cell , vol.117 , pp. 541-552
    • Li, J.B.1
  • 26
    • 20244381625 scopus 로고    scopus 로고
    • The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
    • Kim J.C., et al. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat. Genet. 2004, 36:462-470.
    • (2004) Nat. Genet. , vol.36 , pp. 462-470
    • Kim, J.C.1
  • 27
    • 3042738924 scopus 로고    scopus 로고
    • Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
    • Blacque O.E., et al. Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev. 2004, 18:1630-1642.
    • (2004) Genes Dev. , vol.18 , pp. 1630-1642
    • Blacque, O.E.1
  • 28
    • 33144456230 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function
    • Yen H.J., et al. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum. Mol. Genet. 2006, 15:667-677.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 667-677
    • Yen, H.J.1
  • 29
    • 53749107001 scopus 로고    scopus 로고
    • Restoration of renal function in zebrafish models of ciliopathies
    • Tobin J.L., Beales P.L. Restoration of renal function in zebrafish models of ciliopathies. Pediatr. Nephrol. 2008, 23:2095-12095.
    • (2008) Pediatr. Nephrol. , vol.23 , pp. 2095-12095
    • Tobin, J.L.1    Beales, P.L.2
  • 30
    • 9344261783 scopus 로고    scopus 로고
    • Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
    • Nishimura D.Y., et al. 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, 101:16588-16593.
    • (2004) Proc. Natl. Acad. Sci. U.S.A. , vol.101 , pp. 16588-16593
    • Nishimura, D.Y.1
  • 31
    • 0036699538 scopus 로고    scopus 로고
    • Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
    • Mykytyn K., et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat. Genet. 2002, 31:435-438.
    • (2002) Nat. Genet. , vol.31 , pp. 435-438
    • Mykytyn, K.1
  • 32
    • 37649020306 scopus 로고    scopus 로고
    • A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
    • Davis R.E., et al. 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, 104:19422-19427.
    • (2007) Proc. Natl. Acad. Sci. U.S.A. , vol.104 , pp. 19422-19427
    • Davis, R.E.1
  • 33
    • 41949116864 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
    • Berbari N.F., et al. Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia. Proc. Nat. Acad. Sci. U.S.A. 2008, 105:4242-4246.
    • (2008) Proc. Nat. Acad. Sci. U.S.A. , vol.105 , pp. 4242-4246
    • Berbari, N.F.1
  • 34
    • 0034725792 scopus 로고    scopus 로고
    • Localization of 5-HT6 receptors at the plasma membrane of neuronal cilia in the rat brain
    • Brailov I., et al. Localization of 5-HT6 receptors at the plasma membrane of neuronal cilia in the rat brain. Brain Res. 2000, 872:271-275.
    • (2000) Brain Res. , vol.872 , pp. 271-275
    • Brailov, I.1
  • 35
    • 34548490748 scopus 로고    scopus 로고
    • Disruption of intraflagellar transport in adult mice leads to transport obesity and slow-onset cystic kidney disease
    • Davenport J.R., et al. Disruption of intraflagellar transport in adult mice leads to transport obesity and slow-onset cystic kidney disease. Curr. Biol. 2007, 17:1586-1594.
    • (2007) Curr. Biol. , vol.17 , pp. 1586-1594
    • Davenport, J.R.1
  • 36
    • 33644616841 scopus 로고    scopus 로고
    • Polygenic control of Caenorhabditis elegans fat storage
    • Mak H.Y., et al. Polygenic control of Caenorhabditis elegans fat storage. Nat. Genet. 2006, 38:363-368.
    • (2006) Nat. Genet. , vol.38 , pp. 363-368
    • Mak, H.Y.1
  • 37
    • 34250012834 scopus 로고    scopus 로고
    • A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
    • Nachury M.V., et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 2007, 129:1201-1213.
    • (2007) Cell , vol.129 , pp. 1201-1213
    • Nachury, M.V.1
  • 38
    • 57049171416 scopus 로고    scopus 로고
    • A BBSome subunit links ciliogenesis, microtubule stability, and acetylation
    • Loktev A.V., et al. A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev. Cell 2008, 15:854-865.
    • (2008) Dev. Cell , vol.15 , pp. 854-865
    • Loktev, A.V.1
  • 39
    • 76549121983 scopus 로고    scopus 로고
    • BBS6 BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
    • Seo S.J., et al. BBS6 BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:2054-2059.
    • (2010) Proc. Natl. Acad. Sci. U.S.A. , vol.107 , pp. 2054-2059
    • Seo, S.J.1
  • 40
    • 33646562887 scopus 로고    scopus 로고
    • Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
    • Chiang A.P., et al. 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, 103:6287-6292.
    • (2006) Proc. Natl. Acad. Sci. U.S.A. , vol.103 , pp. 6287-6292
    • Chiang, A.P.1
  • 41
    • 67249131486 scopus 로고    scopus 로고
    • TRIM32 is an E3 ubiquitin ligase for dysbindin
    • Locke M., et al. TRIM32 is an E3 ubiquitin ligase for dysbindin. Hum. Mol. Genet. 2009, 18:2344-2358.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 2344-2358
    • Locke, M.1
  • 42
    • 0242408534 scopus 로고    scopus 로고
    • Energy metabolism in Bardet-Biedl syndrome
    • Grace C., et al. Energy metabolism in Bardet-Biedl syndrome. Int. J. Obes. 2003, 27:1319-1324.
    • (2003) Int. J. Obes. , vol.27 , pp. 1319-1324
    • Grace, C.1
  • 43
    • 79952297519 scopus 로고    scopus 로고
    • Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance
    • Feuillan P.P., et al. Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. J. Clin. Endocrinol. Metab. 2011, 96:E528-535.
    • (2011) J. Clin. Endocrinol. Metab. , vol.96
    • Feuillan, P.P.1
  • 44
    • 19944431708 scopus 로고    scopus 로고
    • Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study
    • Moore S.J., et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am. J. Med. Genet. A 2005, 132:352-360.
    • (2005) Am. J. Med. Genet. A , vol.132 , pp. 352-360
    • Moore, S.J.1
  • 45
    • 19444377129 scopus 로고    scopus 로고
    • Lifting the lid on Pandora's box: the Bardet-Biedl syndrome
    • Beales P.L. Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Curr. Opin. Genet. Dev. 2005, 15:315-323.
    • (2005) Curr. Opin. Genet. Dev. , vol.15 , pp. 315-323
    • Beales, P.L.1
  • 46
    • 58149163142 scopus 로고    scopus 로고
    • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
    • Willer C.J., et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat. Genet. 2009, 41:25-34.
    • (2009) Nat. Genet. , vol.41 , pp. 25-34
    • Willer, C.J.1
  • 47
    • 77953730407 scopus 로고    scopus 로고
    • Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome
    • Zaghloul N.A., et al. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc. Nat. Acad. Sci. U.S.A. 2010, 107:10602-10607.
    • (2010) Proc. Nat. Acad. Sci. U.S.A. , vol.107 , pp. 10602-10607
    • Zaghloul, N.A.1
  • 48
    • 33746959616 scopus 로고    scopus 로고
    • Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
    • Eichers E.R., et al. Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Hum. Genet. 2006, 120:211-226.
    • (2006) Hum. Genet. , vol.120 , pp. 211-226
    • Eichers, E.R.1
  • 49
    • 41849134729 scopus 로고    scopus 로고
    • Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome
    • Rahmouni K., et al. Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J. Clin. Invest. 2008, 118:1458-1467.
    • (2008) J. Clin. Invest. , vol.118 , pp. 1458-1467
    • Rahmouni, K.1
  • 50
    • 0028139089 scopus 로고
    • Positional cloning of the mouse obese gene and its human homologue
    • Zhang Y., et al. Positional cloning of the mouse obese gene and its human homologue. Nature 1994, 372:425-432.
    • (1994) Nature , vol.372 , pp. 425-432
    • Zhang, Y.1
  • 51
    • 33748931457 scopus 로고    scopus 로고
    • Central nervous system control of food intake and body weight
    • Morton G.J., et al. Central nervous system control of food intake and body weight. Nature 2006, 443:289-295.
    • (2006) Nature , vol.443 , pp. 289-295
    • Morton, G.J.1
  • 52
    • 0842324779 scopus 로고    scopus 로고
    • Obesity wars: molecular progress confronts an expanding epidemic
    • Flier J.S. Obesity wars: molecular progress confronts an expanding epidemic. Cell 2004, 116:337-350.
    • (2004) Cell , vol.116 , pp. 337-350
    • Flier, J.S.1
  • 53
    • 34147119799 scopus 로고    scopus 로고
    • The hormonal control of food intake
    • Coll A.P., et al. The hormonal control of food intake. Cell 2007, 129:251-262.
    • (2007) Cell , vol.129 , pp. 251-262
    • Coll, A.P.1
  • 54
    • 20944445215 scopus 로고    scopus 로고
    • Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
    • Fath M.A., et al. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum. Mol. Genet. 2005, 14:1109-1118.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1109-1118
    • Fath, M.A.1
  • 55
    • 63149175815 scopus 로고    scopus 로고
    • Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
    • Seo S.J., et al. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum. Mol. Genet. 2009, 18:1323-1331.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 1323-1331
    • Seo, S.J.1
  • 56
    • 0029864416 scopus 로고    scopus 로고
    • Leptin enters the brain by a saturable system independent of insulin
    • Banks W.A., et al. Leptin enters the brain by a saturable system independent of insulin. Peptides 1996, 17:305-311.
    • (1996) Peptides , vol.17 , pp. 305-311
    • Banks, W.A.1
  • 57
    • 13344259300 scopus 로고    scopus 로고
    • Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice
    • Chen H., et al. Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice. Cell 1996, 84:491-495.
    • (1996) Cell , vol.84 , pp. 491-495
    • Chen, H.1
  • 58
    • 0030590070 scopus 로고    scopus 로고
    • Substitution at codon 269 (glutamine -> proline) of the leptin receptor (OB-R) cDNA is the only mutation found in the Zucker fatty (fa/fa) rat
    • Iida M., et al. Substitution at codon 269 (glutamine -> proline) of the leptin receptor (OB-R) cDNA is the only mutation found in the Zucker fatty (fa/fa) rat. Biochem. Biophys. Res. Commun. 1996, 224:597-604.
    • (1996) Biochem. Biophys. Res. Commun. , vol.224 , pp. 597-604
    • Iida, M.1
  • 59
    • 0029895421 scopus 로고    scopus 로고
    • Phenotype-linked amino acid alteration in leptin receptor cDNA from Zucker fatty (fa/fa) rat
    • Iida M., et al. Phenotype-linked amino acid alteration in leptin receptor cDNA from Zucker fatty (fa/fa) rat. Biochem. Biophys. Res. Commun. 1996, 222:19-26.
    • (1996) Biochem. Biophys. Res. Commun. , vol.222 , pp. 19-26
    • Iida, M.1
  • 60
    • 0030039272 scopus 로고    scopus 로고
    • Abnormal splicing of the leptin receptor in diabetic mice
    • Lee G.H., et al. Abnormal splicing of the leptin receptor in diabetic mice. Nature 1996, 379:632-635.
    • (1996) Nature , vol.379 , pp. 632-635
    • Lee, G.H.1
  • 61
    • 0030137757 scopus 로고    scopus 로고
    • Leptin receptor missense mutation in the fatty Zucker rat
    • Phillips M.S., et al. Leptin receptor missense mutation in the fatty Zucker rat. Nat. Genet. 1996, 13:18-19.
    • (1996) Nat. Genet. , vol.13 , pp. 18-19
    • Phillips, M.S.1
  • 62
    • 0030570741 scopus 로고    scopus 로고
    • Molecular cloning of rat leptin receptor isoform complementary DNAs-identification of a missense mutation in Zucker fatty (fa/fa) rats
    • Takaya K., et al. Molecular cloning of rat leptin receptor isoform complementary DNAs-identification of a missense mutation in Zucker fatty (fa/fa) rats. Biochem. Biophys. Res. Commun. 1996, 225:75-83.
    • (1996) Biochem. Biophys. Res. Commun. , vol.225 , pp. 75-83
    • Takaya, K.1
  • 63
    • 43549114292 scopus 로고    scopus 로고
    • Mechanisms of leptin action and leptin resistance
    • Myers M.G., et al. Mechanisms of leptin action and leptin resistance. Annu. Rev. Physiol. 2008, 70:537-556.
    • (2008) Annu. Rev. Physiol. , vol.70 , pp. 537-556
    • Myers, M.G.1
  • 64
    • 0037456304 scopus 로고    scopus 로고
    • STAT3 signalling is required for leptin regulation of energy balance but not reproduction
    • Bates S.H., et al. STAT3 signalling is required for leptin regulation of energy balance but not reproduction. Nature 2003, 421:856-859.
    • (2003) Nature , vol.421 , pp. 856-859
    • Bates, S.H.1
  • 65
    • 58749086043 scopus 로고    scopus 로고
    • The geometry of leptin action in the brain: more complicated than a simple ARC
    • Myers M.G., et al. The geometry of leptin action in the brain: more complicated than a simple ARC. Cell Metab. 2009, 9:117-123.
    • (2009) Cell Metab. , vol.9 , pp. 117-123
    • Myers, M.G.1
  • 66
    • 34147110360 scopus 로고    scopus 로고
    • Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis
    • Forti E., et al. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. Int. J. Biochem. Cell Biol. 2007, 39:1055-1062.
    • (2007) Int. J. Biochem. Cell Biol. , vol.39 , pp. 1055-1062
    • Forti, E.1
  • 67
    • 60549102275 scopus 로고    scopus 로고
    • Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation
    • Marion V., et al. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:1820-1825.
    • (2009) Proc. Natl. Acad. Sci. U.S.A. , vol.106 , pp. 1820-1825
    • Marion, V.1
  • 68
    • 33846064322 scopus 로고    scopus 로고
    • Leptin and its receptors are present in the rat olfactory mucosa and modulated by the nutritional status
    • Baly C., et al. Leptin and its receptors are present in the rat olfactory mucosa and modulated by the nutritional status. Brain Res. 2007, 1129:130-141.
    • (2007) Brain Res. , vol.1129 , pp. 130-141
    • Baly, C.1
  • 69
    • 74149094598 scopus 로고    scopus 로고
    • The role of melanin-concentrating hormone in energy homeostasis and mood disorders
    • Antal-Zimanyi I., Khawaja X. The role of melanin-concentrating hormone in energy homeostasis and mood disorders. J. Mol. Neurosci. 2009, 39:86-98.
    • (2009) J. Mol. Neurosci. , vol.39 , pp. 86-98
    • Antal-Zimanyi, I.1    Khawaja, X.2
  • 70
    • 70349841277 scopus 로고    scopus 로고
    • Animals models of MCH function and what they can tell us about its role in energy balance
    • Pissios P. Animals models of MCH function and what they can tell us about its role in energy balance. Peptides 2009, 30:2040-2044.
    • (2009) Peptides , vol.30 , pp. 2040-2044
    • Pissios, P.1
  • 71
    • 53049090185 scopus 로고    scopus 로고
    • Reduced sensitivity to diet-induced obesity in mice carrying a mutant 5-HT6 receptor
    • Frassetto A., et al. Reduced sensitivity to diet-induced obesity in mice carrying a mutant 5-HT6 receptor. Brain Res. 2008, 1236:140-144.
    • (2008) Brain Res. , vol.1236 , pp. 140-144
    • Frassetto, A.1
  • 72
    • 33748769378 scopus 로고    scopus 로고
    • The ciliopathies: an emerging class of human genetic disorders
    • Badano J.L., et al. The ciliopathies: an emerging class of human genetic disorders. Annu. Rev. Genom. Hum. Genet. 2006, 7:125-148.
    • (2006) Annu. Rev. Genom. Hum. Genet. , vol.7 , pp. 125-148
    • Badano, J.L.1
  • 73
    • 0021707121 scopus 로고
    • Immotile cilia syndrome associated with polycystic kidney
    • Saeki H., et al. Immotile cilia syndrome associated with polycystic kidney. J. Urol. 1984, 132:1165-1166.
    • (1984) J. Urol. , vol.132 , pp. 1165-1166
    • Saeki, H.1
  • 74
    • 0017162819 scopus 로고
    • Human syndrome caused by immotile cilia
    • Afzelius B.A. Human syndrome caused by immotile cilia. Science 1976, 193:317-319.
    • (1976) Science , vol.193 , pp. 317-319
    • Afzelius, B.A.1
  • 75
    • 0037317302 scopus 로고    scopus 로고
    • Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
    • Nauli S.M., et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat. Genet. 2003, 33:129-137.
    • (2003) Nat. Genet. , vol.33 , pp. 129-137
    • Nauli, S.M.1
  • 76
    • 0036785149 scopus 로고    scopus 로고
    • The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia
    • Yoder B.K., et al. The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J. Am. Soc. Nephrol. 2002, 13:2508-2516.
    • (2002) J. Am. Soc. Nephrol. , vol.13 , pp. 2508-2516
    • Yoder, B.K.1
  • 77
    • 7944223873 scopus 로고    scopus 로고
    • Cilia-related diseases
    • Afzelius B.A. Cilia-related diseases. J. Pathol. 2004, 204:470-477.
    • (2004) J. Pathol. , vol.204 , pp. 470-477
    • Afzelius, B.A.1
  • 78
    • 36849023268 scopus 로고    scopus 로고
    • Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia
    • Tan S.Y., et al. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J. Clin. Invest. 2007, 117:3742-3752.
    • (2007) J. Clin. Invest. , vol.117 , pp. 3742-3752
    • Tan, S.Y.1
  • 79
    • 33745748480 scopus 로고    scopus 로고
    • DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects
    • Hornef N., et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am. J. Respir. Crit. Care Med. 2006, 174:120-126.
    • (2006) Am. J. Respir. Crit. Care Med. , vol.174 , pp. 120-126
    • Hornef, N.1
  • 81
    • 0036578890 scopus 로고    scopus 로고
    • Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
    • Collin G.B., et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat. Genet. 2002, 31:74-78.
    • (2002) Nat. Genet. , vol.31 , pp. 74-78
    • Collin, G.B.1
  • 82
    • 18544391142 scopus 로고    scopus 로고
    • Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome
    • Hearn T., et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat. Genet. 2002, 31:79-83.
    • (2002) Nat. Genet. , vol.31 , pp. 79-83
    • Hearn, T.1
  • 83
    • 0033812186 scopus 로고    scopus 로고
    • Mutations in MKKS cause Bardet-Biedl syndrome
    • Slavotinek A.M., et al. Mutations in MKKS cause Bardet-Biedl syndrome. Nat. Genet. 2000, 26:15-16.
    • (2000) Nat. Genet. , vol.26 , pp. 15-16
    • Slavotinek, A.M.1
  • 84
    • 26444443136 scopus 로고    scopus 로고
    • Alms1-disrupted mice recapitulate human Alström syndrome
    • Collin G.B., et al. Alms1-disrupted mice recapitulate human Alström syndrome. Hum. Mol. Genet. 2005, 14:2323-2333.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 2323-2333
    • Collin, G.B.1
  • 85
    • 33745651353 scopus 로고    scopus 로고
    • Fat Aussie-a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis
    • Arsov T., et al. Fat Aussie-a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis. Mol. Endocrinol. 2006, 20:1610-1622.
    • (2006) Mol. Endocrinol. , vol.20 , pp. 1610-1622
    • Arsov, T.1
  • 86
    • 33845903638 scopus 로고    scopus 로고
    • Altered hypothalamic leptin, insulin, and melanocortin binding associated with moderate-fat diet and predisposition to obesity
    • Irani B.G., et al. Altered hypothalamic leptin, insulin, and melanocortin binding associated with moderate-fat diet and predisposition to obesity. Endocrinology 2007, 148:310-316.
    • (2007) Endocrinology , vol.148 , pp. 310-316
    • Irani, B.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.