Evaluation, of SLC35A3 as a candidate gene for human vertebral malformations [6]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 12, 2006, Pages 1346-1348

  Ghebranious, Nader ^a   Burmester, James K ^a   Glurich, Ingrid ^a   McPherson, Elizabeth ^a   Ivacic, Lynn ^a   Kislow, Jennifer ^a   Rasmussen, Kristen ^a   Kumar, Vikram ^a   Raggio, Cathleen L ^b   Blank, Robert D ^c,d   Jacobsen, F Stig ^a   Faciszewski, Thomas ^a   Womack, James ^e   Giampietro, Philip F ^a  

^a MARSHFIELD CLINIC   (United States)

^b HOSPITAL FOR SPECIAL SURGERY   (United States)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^d WILLIAM S MIDDLETON MEMORIAL VETERANS HOSPITAL   (United States)

^e TEXAS A AND M UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHROGRYPOSIS; GENE; GENE IDENTIFICATION; GENE MUTATION; GOLDENHAR SYNDROME; HEMIFACIAL MICROSOMIA; HUMAN; KLIPPEL FEIL SYNDROME; LETTER; PRIORITY JOURNAL; PROMOTER REGION; SLC35A3 GENE; VERTEBRA MALFORMATION;

COHORT STUDIES; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUSCULOSKELETAL ABNORMALITIES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; SEQUENCE ANALYSIS, DNA; SPINE; SYNDROME;

EID: 33744825975     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31307     Document Type: Letter

References (9)

1. Agerholm JS, Bendixen C, Andersen O, Arnbjerg J. 2001. Complex vertebral malformation in holstein calves. J Vet Diagn Invest 13:283-289.
2. Agerholm JS, Bendixen C, Arnbjerg J. Andersen O. 2004. Morphological variation of "complex vertebral malformation" in Holstein calves. J Vet Diagn Invest 16:548-553.
3. Bruckner K, Perez L, Clausen H, Cohen S. 2000. Glycosyltransferase activity of Fringe modulates Notch-Delta interactions. Nature 406:411-415.
4. Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schonbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y, Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K, Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bull C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y; FANTOM Consortium; RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group). 2005. The transcriptional landscape of the mammalian genome. Science 309:1559-1563.
5. Ghebranious N, Ivacic L, Mallum J, Dokken C. 2005. Detection of ApoE E2, E3, and E4 alleles using MALDI-TOF mass spectrometry and the homogeneous mass-extend technology. Nucleic Acids Res 33:e149.
6. Giampietro PF, Raggio CL, Reynolds CE, Shukla SK, McPherson E, Ghebranious N, Jacobsen FS, Kumar V, Faciszewski T, Pauli RM, Rasmussen K, Burmester JK, Zaleski C, Merchant S, David D, Weber JL, Glurich I, Blank RD. 2005. An analysis of PAX1 in the development of vertebral malformations. Clin Genet 68:448-453.
7. Ishida N, Yoshioka S, Chiba Y, Takeuchi M, Kawakita M. 1999. Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter. J Biochem (Tokyo) 126:68-77.
8. Maisenbacher MK, Han JS, O'Brien ML, Tracy MR, Erol B, Schaffer AA, Dormans JP, Zackai EH, Kusumi K. 2005. Molecular analysis of congenital scoliosis: A candidate gene approach. Hum Genet 116:416-419.
9. Thomsen B, Horn P, Panitz F, Bendixen E, Petersen AH, Holm LE, Nielsen VH, Agerholm JS, Arnbjerg J, Bendixen C. 2006. A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acteylglucosamine transporter, causes complex vertebral malformation. Genome Res 16: 97-105.