Brian P Brooks

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance
    Penelope P Feuillan
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    J Clin Endocrinol Metab 96:E528-35. 2011
  2. pmc Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human
    Ramakrishna P Alur
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
    PLoS Genet 6:e1000870. 2010
  3. pmc Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage
    Brian P Brooks
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ophthalmology 120:1324-36. 2013
  4. pmc Ocular manifestations of trichothiodystrophy
    Brian P Brooks
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ophthalmology 118:2335-42. 2011
  5. ncbi request reprint Infantile spasms as a cause of acquired perinatal visual loss
    Brian P Brooks
    Department of Ophthalmology, Kellogg Eye Center, University of Michigan, Ann Arbor, USA
    J AAPOS 6:385-8. 2002
  6. pmc Analysis of ocular hypopigmentation in Rab38cht/cht mice
    Brian P Brooks
    National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 48:3905-13. 2007
  7. pmc Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
    Brian P Brooks
    National Eye Institute, USA
    BMC Med Genet 7:2. 2006
  8. pmc Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report
    Brian P Brooks
    National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
    BMC Ophthalmol 4:7. 2004
  9. ncbi request reprint A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome
    Brian P Brooks
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
    Ophthalmic Genet 25:57-62. 2004
  10. doi request reprint Systemic diagnostic testing in patients with apparently isolated uveal coloboma
    Nancy Huynh
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
    Am J Ophthalmol 156:1159-1168.e4. 2013

Detail Information

Publications36

  1. pmc Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance
    Penelope P Feuillan
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    J Clin Endocrinol Metab 96:E528-35. 2011
    ..To study the pathophysiology of obesity in BBS, we compared patients with BBS and body mass index Z-score (BMI-Z)-matched controls...
  2. pmc Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human
    Ramakrishna P Alur
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
    PLoS Genet 6:e1000870. 2010
    ..T74A) in vivo, likely by reducing protein stability. These results suggest that hypomorphic alleles of PAX2/Pax2 can lead to significant disease in humans and mice...
  3. pmc Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage
    Brian P Brooks
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ophthalmology 120:1324-36. 2013
    ..This report describes the ocular manifestations of XP in patients systematically evaluated in the Clinical Center at the National Institutes of Health...
  4. pmc Ocular manifestations of trichothiodystrophy
    Brian P Brooks
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ophthalmology 118:2335-42. 2011
    ..Many TTD patients have a defect in known DNA repair genes. This report systematically evaluates the ocular manifestations of the largest-to-date cohort of TTD patients and xeroderma pigmentosum (XP)/TTD patients...
  5. ncbi request reprint Infantile spasms as a cause of acquired perinatal visual loss
    Brian P Brooks
    Department of Ophthalmology, Kellogg Eye Center, University of Michigan, Ann Arbor, USA
    J AAPOS 6:385-8. 2002
    ..Visual abnormalities have been described in patients with infantile spasms (IS), an epileptic syndrome of early childhood...
  6. pmc Analysis of ocular hypopigmentation in Rab38cht/cht mice
    Brian P Brooks
    National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 48:3905-13. 2007
    ..To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome...
  7. pmc Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
    Brian P Brooks
    National Eye Institute, USA
    BMC Med Genet 7:2. 2006
    ..Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments...
  8. pmc Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report
    Brian P Brooks
    National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
    BMC Ophthalmol 4:7. 2004
    ..Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13...
  9. ncbi request reprint A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome
    Brian P Brooks
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
    Ophthalmic Genet 25:57-62. 2004
    ..To determine the underlying genetic cause of Axenfeld-Rieger syndrome (ARS) in a three-generation family...
  10. doi request reprint Systemic diagnostic testing in patients with apparently isolated uveal coloboma
    Nancy Huynh
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
    Am J Ophthalmol 156:1159-1168.e4. 2013
    ..To investigate the frequency and types of systemic findings in patients with apparently isolated uveal coloboma...
  11. pmc Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure
    Jacob D Brown
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 106:1462-7. 2009
    ..We also identify misregulation of pax2 in the developing eye of morphant fish, suggesting that Nlz1 and Nlz2 act upstream of the Pax2 pathway in directing proper closure of the optic fissure...
  12. pmc A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum
    Daniel E Pineda-Alvarez
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20814, USA
    Am J Med Genet A 155:2713-20. 2011
    ..These findings contribute to the understanding of the phenotypic variability of the HPE spectrum, and highlight findings in one medically important but often incompletely investigated system...
  13. pmc Optic nerve axon number in mouse is regulated by PAX2
    Ramakrishna P Alur
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    J AAPOS 12:117-21. 2008
    ....
  14. pmc Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL
    Lorenzo L Nichols
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mutat 31:E1472-83. 2010
    ..Such patients would therefore not likely benefit from a simple, gene-replacement strategy for their disease...
  15. pmc DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
    Dimitre R Simeonov
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Hum Mutat 34:827-35. 2013
    ..Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation...
  16. pmc High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies
    Deborah Tamura
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA
    Prenat Diagn 31:1046-53. 2011
    ..To identify the frequency of pregnancy and neonatal complications in pregnancies carrying fetuses affected with trichothiodystrophy (TTD)...
  17. pmc Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism
    Ighovie F Onojafe
    Unit on Pediatric, Developmental, and Genetic Eye Disease, National Eye Institute, NIH, Bethesda, Maryland 20892, USA
    J Clin Invest 121:3914-23. 2011
    ..These results suggest that the use of nitisinone in OCA-1B patients could improve their pigmentation and potentially ameliorate vision loss...
  18. pmc Nonlinear gene cluster analysis with labeling for microarray gene expression data in organ development
    Martin Ehler
    National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Medical Biophysics, Bethesda MD 20892, USA
    BMC Proc 5:S3. 2011
    ..5 to 12.5) of optic fissure closure...
  19. ncbi request reprint Mutation of the FOXC2 gene in familial distichiasis
    Brian P Brooks
    Department of Ophthalmology, University of Michigan, Ann Arbor, MI, USA
    J AAPOS 7:354-7. 2003
    ..To examine the FOXC2 gene in a family with hereditary distichiasis...
  20. pmc Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome
    Joan C Han
    Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD, National Institutes of Health, Bethesda, MD, USA Section on Growth and Obesity, Program in Developmental Endocrinology and Genetics, NICHD, National Institutes of Health, Bethesda, MD, USA Electronic address
    Cortex 49:2700-10. 2013
    ..Our findings support the hypothesis that BDNF plays an important role in human neurocognitive development...
  21. ncbi request reprint Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature
    Emily S Doherty
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet A 143:3204-15. 2007
    ..01). Based on our findings, we propose that the clinical management should include audiometric and developmental assessment in addition to standard clinical care and appropriate genetic counseling...
  22. ncbi request reprint Uveal coloboma: clinical and basic science update
    Lan Chang
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Curr Opin Ophthalmol 17:447-70. 2006
    ..To integrate knowledge on the embryologic and molecular basis of optic fissure closure with clinical observations in patients with uveal coloboma...
  23. pmc Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature
    Hema L Ramkumar
    Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
    Surv Ophthalmol 56:348-61. 2011
    ..These cases illustrate the role of DNA repair in protection of the eyes from UV damage and neurodegeneration of the retina...
  24. pmc RedundancyMiner: De-replication of redundant GO categories in microarray and proteomics analysis
    Barry R Zeeberg
    Laboratory of Molecular Pharmacology, Center for Cancer Research, National Cancer Institute, NIH, Room 5068, Building 37, 37 Convent Drive, Bethesda, MD 20892, USA
    BMC Bioinformatics 12:52. 2011
    ..The redundancy might typically inflate the report of significant categories by a factor of three-fold, create an illusion of an overly long list of significant categories, and obscure the relevant biological interpretation...
  25. ncbi request reprint aldh7a1 Regulates Eye and Limb Development in Zebrafish
    Holly E Babcock
    Unit on Pediatric, Developmental and Genetic Ophthalmology, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 9:e101782. 2014
    ..These results support a role of aldh7a1 in ocular development and skeletal abnormalities in zebrafish. ..
  26. doi request reprint Developing cellular therapies for retinal degenerative diseases
    Kapil Bharti
    Unit on Ocular and Stem Cell Translational Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland
    Invest Ophthalmol Vis Sci 55:1191-202. 2014
    ..Many of the ocular stem cell approaches we discuss are also being used more broadly, for nonocular conditions and therefore the model we develop here, using the precompetitive space, should benefit the entire scientific community. ..
  27. pmc Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity
    Monika B Dolinska
    National Eye Institute, NIH, Bethesda, Maryland, United States of America
    PLoS ONE 9:e84494. 2014
    ..Therapeutic research for OCA1 has been hampered, in part, by the absence of purified, active, recombinant wild-type and mutant human enzymes...
  28. ncbi request reprint Optic neuropathies in inherited metabolic disorders
    Marjan Huizing
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Pediatr Endocrinol Rev 3:97-103. 2005
    ..Here we review the substantial group of metabolic disorders that include optic neuropathies which may aid ophthalmologist, geneticist, neurologist, endocrinologist and other involved specialists in the diagnosis process...
  29. pmc Phenotype and course of Hutchinson-Gilford progeria syndrome
    Melissa A Merideth
    National Human Genome Research Institute, Intramural Office of Rare Disease, National Institutes of Health, Bethesda, MD 20892 1851, USA
    N Engl J Med 358:592-604. 2008
    ....
  30. ncbi request reprint Increased corneal thickness in patients with ocular coloboma
    Johnny Tang
    Ophthalmic Genetics and Visual Function Branch, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 1852, USA
    J AAPOS 10:175-7. 2006
  31. ncbi request reprint Optic atrophies in metabolic disorders
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 86:51-60. 2005
    ..For many metabolic disorders, molecular testing is available...
  32. ncbi request reprint Molecular diagnosis and genetic counseling in ophthalmology
    Delphine Blain
    National Eye Institute, National Institutes of Health, Department of Health and Human Services, 10 Center Drive, Bethesda, MD 20892, USA
    Arch Ophthalmol 125:196-203. 2007
  33. ncbi request reprint Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome
    Halima Goodwin
    Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, Maryland 20892, USA
    Am J Med Genet A 146:208-11. 2008
    ..These findings are suggestive an inflammatory component that is consistent with impaired competence of the lens capsule...
  34. ncbi request reprint Absent optic chiasm presenting with horizontal nystagmus
    Daniel J Salchow
    Department of Ophthalmology, Yale University School of Medicine, New Haven, CT 06510, USA
    J Pediatr Ophthalmol Strabismus 47:187-91. 2010
    ..Systemic abnormalities in this patient included cleft lip, preauricular skin tags, broad thumbs, and an anteriorly positioned anus, suggestive of Townes-Brock syndrome...
  35. ncbi request reprint Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein
    Herbert M Espinoza
    Department of Biological Science, The University of Tulsa, Tulsa, Oklahoma 74104 3189, USA
    Biochemistry 44:3942-54. 2005
    ..Overall, phosphorylation imparts another level of regulation to the activity of the PITX2 homeodomain protein during development...
  36. ncbi request reprint FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome
    Benjamin M Kriederman
    University of Arizona, Department of Surgery, Tucson, Arizona, USA
    Hum Mol Genet 12:1179-85. 2003
    ....