BBS protein complex-interacting protein
The BBIP1 gene encodes a ciliary receptor protein. It is responsible for autosomal recessive Bardet-Biedl syndrome 18.
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References:
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Nishimura DY et al. (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
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2. |
Billingsley G et al. (2010) Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
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3. |
Hjortshøj TD et al. (2008) Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
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4. |
Young TL et al. (1999) A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.
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5. |
Iannaccone A et al. (2005) Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene.
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6. |
Katsanis N et al. (2002) BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
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7. |
Mykytyn K et al. (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
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8. |
Carmi R et al. (1995) Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
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9. |
Chiang AP et al. (2004) Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).
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10. |
Ghadami M et al. (2000) Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.
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11. |
Young TL et al. (1998) Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.
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12. |
Laurier V et al. (2006) Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
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13. |
Badano JL et al. (2003) Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
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14. |
Sheffield VC et al. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.
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15. |
Scheidecker S et al. (2014) Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
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16. |
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17. |
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18. |
Muller J et al. (2010) Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
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19. |
Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
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20. |
Shah AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
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21. |
Davis RE et al. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
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22. |
Tan PL et al. (2007) Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.
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23. |
Ross AJ et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
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24. |
Moore SJ et al. (2005) Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.
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25. |
Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
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26. |
Loktev AV et al. (2008) A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
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27. |
Cardenas-Rodriguez M et al. (2013) Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.
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28. |
Seo S et al. (2011) A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
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29. |
Badano JL et al. (2006) Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
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30. |
Beales PL et al. (2003) Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
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31. |
Kiss H et al. (2001) The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3.
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32. |
Aldahmesh MA et al. (2014) IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
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33. |
Schaefer E et al. (2014) Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.
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34. |
Marion V et al. (2012) Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
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35. |
Deffert C et al. (2007) Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.
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36. |
Billingsley G et al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.
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37. |
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38. |
Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
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39. |
Xing DJ et al. (2014) Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.
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40. |
Leitch CC et al. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
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41. |
Dulfer E et al. (2010) Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
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42. |
Stoetzel C et al. (2007) Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
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43. |
Putoux A et al. (2010) BBS10 mutations are common in 'Meckel'-type cystic kidneys.
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44. |
Stoetzel C et al. (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
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45. |
Nishimura DY et al. (2005) Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
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46. |
Stoetzel C et al. (2006) BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
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47. |
Ansley SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
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48. |
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49. |
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50. |
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51. |
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52. |
None (1971) Familial translocation t(2p-; 17p+).
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53. |
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54. |
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55. |
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56. |
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57. |
Farag TI et al. (1989) High incidence of Bardet Biedl syndrome among the Bedouin.
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58. |
Croft JB et al. (1990) Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs.
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59. |
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60. |
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61. |
Fan Y et al. (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
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62. |
Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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63. |
Kwitek-Black AE et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.
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64. |
Slavotinek AM et al. (2000) Mutations in MKKS cause Bardet-Biedl syndrome.
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65. |
Beales PL et al. (2001) 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.
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66. |
Katsanis N et al. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
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67. |
Katsanis N et al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
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68. |
Li JB et al. (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
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69. |
Chiang AP et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
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70. |
Carmi R et al. (1995) Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.
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71. |
Leppert M et al. (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
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72. |
Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
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73. |
Pagon RA et al. (1982) Hepatic involvement in the Bardet-Biedl syndrome.
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74. |
Kulaga HM et al. (2004) Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
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75. |
CICCARELLI EC et al. (1961) Laurence-Moon-Biedl syndrome. Report of an unusual family.
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76. |
None (1956) Laurence-Moon-Biedl syndrome in an Arab boy: familial incidence.
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77. |
Cox GF et al. (2003) Retinal function in carriers of Bardet-Biedl syndrome.
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78. |
Mykytyn K et al. (2003) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
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79. |
Mykytyn K et al. (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
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80. |
Katsanis N et al. (2001) Exploring the molecular basis of Bardet-Biedl syndrome.
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81. |
Burghes AH et al. (2001) Genetics. The land between Mendelian and multifactorial inheritance.
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82. |
Beales PL et al. (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
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83. |
Lorda-Sanchez I et al. (2000) Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.
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84. |
Young TL et al. (1999) A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.
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85. |
Katsanis N et al. (1999) Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
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86. |
David A et al. (1999) Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
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87. |
Woods MO et al. (1999) Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.
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88. |
Bruford EA et al. (1997) Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
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89. |
Mehrotra N et al. (1997) Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome.
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90. |
Beales PL et al. (1997) Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
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91. |
Işlek I et al. (1996) Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease.
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92. |
Elbedour K et al. (1994) Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.
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93. |
Stoler JM et al. (1995) Genital abnormalities in females with Bardet-Biedl syndrome.
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94. |
Croft JB et al. (1995) Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome.
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95. |
Haning RV et al. (1980) Virilism as a late manifestation in the Bardet-Biedl syndrome.
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96. |
Schachat AP et al. (1982) Bardet-Biedl syndrome and related disorders.
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97. |
Orphanet article
Orphanet ID 390746
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98. |
NCBI article
NCBI 92482
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99. |
OMIM.ORG article
Omim 613605
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Update: Aug. 14, 2020