Human HOX gene mutations

Clinical Genetics

Volumn 59, Issue 1, 2001, Pages 1-11

  Goodman, F R ^a   Scambler, P J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Hand Foot Genital syndrome; HOX gene; HOXA13; HOXD13; Limb malformations; Polyalanine tract expansions; Synpolydactyly

Indexed keywords

HOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

CANCER; CENTRAL NERVOUS SYSTEM; CHILD; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; FOOT; GENE MUTATION; GENITAL SYSTEM; HAND; HUMAN; INTESTINE; LIMB; LIMB MALFORMATION; NERVOUS SYSTEM DEVELOPMENT; POLYDACTYLY; PRIORITY JOURNAL; REVIEW; SKELETON; SYNDROME; UROGENITAL SYSTEM; VERTEBRATE;

ABNORMALITIES, MULTIPLE; DNA MUTATIONAL ANALYSIS; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; PHENOTYPE; POLYDACTYLY; TRANSCRIPTION FACTORS;

VERTEBRATA;

EID: 0035159735     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590101.x     Document Type: Review

References (72)

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15. Update on a family with hand-foot-genital syndrome: Hypospadias and urinary tract abnormalities in two boys from the fourth generation
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18. Orientation of the HOXA complex and placement of the Hd locus distal to HOXA2 on mouse chromosome 6
19. Novel HOXA13 mutations and the phenotypic spectrum of Hand-Foot-Genital Syndrome
20. Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency and persistent patent ductus Botalli
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30. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
31. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene
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33. A mutational analysis of the 5' HOXD genes: Dissection of genetic interactions during limb development in the mouse
34. Function of posterior HOXD genes in the morphogenesis of the anal sphincter
35. Male accessory sex organ morphogenesis is altered by loss of function of HOXD-13
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37. Gene dosage-dependent effects of the HOXA-13 and HOXD-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts
38. Patterning of the Drosophila embryo by a homeodomain-deleted Ftz polypeptide
39. Altered HOX expression and increased cell death distinguish Hypodactyly from HOXA13 null mice
40. Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein
41. Know your neighbors: Three phenotypes in null mutants of the myogenic bHLH gene MRF4
42. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
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46. Trinucleotide repeats and long homopeptides in genes and proteins associated with nervous system disease and development
47. Transcriptional repression by the Drosophila even-skipped protein: Definition of a minimal repression domain
48. Mapping and mutagenesis of the amino-terminal transcriptional repression domain of the Drosophila Kruppel protein
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50. Homeodomain-DNA recognition
51. Human HOXA1 gene and hindbrain malformations
52. Analysis of homeobox gene HOXA10 mutations in cryptorchidism
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54. The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
55. Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)
56. The mouse Ulnaless mutation deregulates posterior HOXD gene expression and alters appendicular patterning
57. Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior HOXD genes
58. Oncogenic transcription factors in the human acute leukemias
59. The role of homeobox genes in normal hematopoiesis and hematological malignancies
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62. NUP98-HOXD13 gene fusion in therapy-related acute myclogenous leukemia
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65. CREB binding protein interacts with nucleoporin-specific FG repeats that activate transcription and mediate NUP98-HOXA9 oncogenicity
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67. Overexpression of HOXA10 in murine hematopoietic cells perturbs both myeloid and lymphoid differentiation and leads to acute myeloid leukemia
68. HOXA9 transforms primary bone marrow cells through specific collaboration with Meisla but not Pbx1b
69. Frequent co-expression of the HOXA9 and MEIS1 homeobox genes in human myeloid leukemias
70. Homeobox genes and cancer
71. Compromised HOXA5 function can limit p53 expression in human breast tumours