HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
暂无分享,去创建一个
E. Jabs | D. Hunter | C. Schubert | C. Robson | B. Webb | E. Engle | C. Andrews | Wai-Man Chan | X. Ye | Anthony J. Iacovelli | H. Gaspar | S. Shaaban | D. Oystreck | Sarah E. Mackinnon | Ke Hao | Luis F. Cunha | Anne Camminady | Wai-Man Chan
[1] E. Engle,et al. Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders , 2011, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[2] H. Takeda,et al. Retinoic acid-dependent establishment of positional information in the hindbrain was conserved during vertebrate evolution. , 2011, Developmental biology.
[3] D. Altshuler,et al. A map of human genome variation from population-scale sequencing , 2010, Nature.
[4] M. Patton,et al. A family with hereditary congenital facial paresis and a brief review of the literature. , 2010, Clinical dysmorphology.
[5] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[6] T. Meitinger,et al. Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance , 2010, Cell.
[7] S. Guthrie,et al. Patterning and axon guidance of cranial motor neurons , 2007, Nature Reviews Neuroscience.
[8] E. Traboulsi. Congenital cranial dysinnervation disorders and more. , 2007, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
[9] G. Miller. The Mystery of the Missing Smile , 2007, Science.
[10] L. Selleri,et al. Hox cofactors in vertebrate development. , 2006, Developmental biology.
[11] Arlo Z. Randall,et al. Prediction of protein stability changes for single‐site mutations using support vector machines , 2005, Proteins.
[12] E. Engle,et al. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development , 2005, Nature Genetics.
[13] Modesto Orozco,et al. PMUT: a web-based tool for the annotation of pathological mutations on proteins , 2005, Bioinform..
[14] Y. Chi. Homeodomain revisited: a lesson from disease-causing mutations , 2005, Human Genetics.
[15] D. Wilkinson,et al. Establishing neuronal circuitry: Hox genes make the connection. , 2004, Genes & development.
[16] Benjamin R. Arenkiel,et al. Hoxb1 functions in both motoneurons and in tissues of the periphery to establish and maintain the proper neuronal circuitry. , 2004, Genes & development.
[17] H. Shehata,et al. Neurological disorders in pregnancy , 2004, Current opinion in obstetrics & gynecology.
[18] Christiana Ruhrberg,et al. Neuronal defects in the hindbrain of Hoxa1, Hoxb1 and Hoxb2 mutants reflect regulatory interactions among these Hox genes , 2003, Development.
[19] E. Engle,et al. 110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs) Naarden, The Netherlands, 25–27 October, 2002 , 2003, Neuromuscular Disorders.
[20] J. Cruysberg,et al. Möbius syndrome redefined , 2003, Neurology.
[21] Benjamin R. Arenkiel,et al. Hoxb1 neural crest preferentially form glia of the PNS , 2003, Developmental dynamics : an official publication of the American Association of Anatomists.
[22] L. Serrano,et al. Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. , 2002, Journal of molecular biology.
[23] S. Radovick,et al. Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates. , 2001, Molecular endocrinology.
[24] M. Liberman,et al. Predicting Vulnerability to Acoustic Injury with a Noninvasive Assay of Olivocochlear Reflex Strength , 2000, The Journal of Neuroscience.
[25] M. Capecchi,et al. Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development. , 1999, Development.
[26] H. Kremer,et al. A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family. , 1999, American journal of human genetics.
[27] T. Takumi,et al. Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. , 1999, Diabetes.
[28] M. Cleary,et al. Structure of a HoxB1–Pbx1 Heterodimer Bound to DNA Role of the Hexapeptide and a Fourth Homeodomain Helix in Complex Formation , 1999, Cell.
[29] JoAnn McGee,et al. Long-Term Effects of Sectioning the Olivocochlear Bundle in Neonatal Cats , 1998, The Journal of Neuroscience.
[30] R. Krumlauf,et al. Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch. , 1998, Development.
[31] M. Liberman,et al. Conditioning-related protection from acoustic injury: effects of chronic deefferentation and sham surgery. , 1997, Journal of neurophysiology.
[32] P. Chambon,et al. Role of Hoxa-2 in axon pathfinding and rostral hindbrain patterning. , 1997, Development.
[33] F. Mavilio,et al. Functional dissection of a transcriptionally active, target‐specific Hox–Pbx complex , 1997, The EMBO journal.
[34] M. Featherstone,et al. Distinct HOX N-terminal Arm Residues Are Responsible for Specificity of DNA Recognition by HOX Monomers and HOX·PBX Heterodimers* , 1997, The Journal of Biological Chemistry.
[35] R. Krumlauf,et al. Altered segmental identity and abnormal migration of motor neurons in mice lacking Hoxb-1 , 1996, Nature.
[36] J. M. Goddard,et al. Mice with targeted disruption of Hoxb-1 fail to form the motor nucleus of the VIIth nerve. , 1996, Development.
[37] J. Leunissen,et al. Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. , 1996, Human molecular genetics.
[38] R. Mann,et al. Extra specificity from extradenticle: the partnership between HOX and PBX/EXD homeodomain proteins. , 1996, Trends in genetics : TIG.
[39] P. Knoepfler,et al. The pentapeptide motif of Hox proteins is required for cooperative DNA binding with Pbx1, physically contacts Pbx1, and enhances DNA binding by Pbx1 , 1995, Molecular and cellular biology.
[40] R. Mann. The specificity of homeotic gene function , 1995, BioEssays : news and reviews in molecular, cellular and developmental biology.
[41] M. Cleary,et al. Pbx proteins display hexapeptide-dependent cooperative DNA binding with a subset of Hox proteins. , 1995, Genes & development.
[42] R. Krumlauf. Hox genes in vertebrate development , 1994, Cell.
[43] T Kawase,et al. Antimasking effects of the olivocochlear reflex. II. Enhancement of auditory-nerve response to masked tones. , 1993, Journal of neurophysiology.
[44] M. Scott. Vertebrate homeobox gene nomenclature , 1992, Cell.
[45] William McGinnis,et al. Homeobox genes and axial patterning , 1992, Cell.
[46] R. Grantham. Amino Acid Difference Formula to Help Explain Protein Evolution , 1974, Science.
[47] Kathleen R. Bogart,et al. Living with Moebius syndrome: adjustment, social competence, and satisfaction with life. , 2010, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.
[48] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.
[49] R. Mann,et al. Hox specificity unique roles for cofactors and collaborators. , 2009, Current topics in developmental biology.
[50] R. Mann,et al. Chapter 3 Hox Specificity , 2009 .
[51] G. Miller. Neurological disorders. The mystery of the missing smile. , 2007, Science.
[52] Wen-Hsiung Li,et al. Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications , 2005, Journal of Molecular Evolution.
[53] Elizabeth M. Smigielski,et al. dbSNP: the NCBI database of genetic variation , 2001, Nucleic Acids Res..
[54] E. Boncinelli,et al. A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online. , 1998, Human Mutation.
[55] A. Shimizu,et al. A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online. , 1998 .
[56] W. Gehring,et al. Homeodomain proteins. , 1994, Annual review of biochemistry.