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Research highlights from members of the BDRC

The following publications give a glimpse of the range and quality of research into birth defects amongst members of the BDRC:

Genetics and epigenetics

Bockenhauer D., Feather S., Stanescu H.C., Bandulik S., Zdebik A.A., Reichold M., Tobin J., Lieberer E., Sterner C., Landoure G., Arora R., Sirimanna T., Thompson D., Cross J.H., van't Hoff W., Al M.O., Tullus K., Yeung S., Anikster Y., Klootwijk E., Hubank M., Dillon M.J., Heitzmann D., Arcos-Burgos M., Knepper M.A., Dobbie A., Gahl W.A., Warth R., Sheridan E., and Kleta R. (2009). Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N. Engl. J. Med. 360: 1960-1970.

Brouns M.R., de Castro S.C., Terwindt-Rouwenhorst E.A., Massa V., Hekking J.W., HIrst C.S., Savery D., Munts C., Partridge D., Lamers W., Kohler E., van Straaten H.W., Copp A.J., and Greene N.D. (2011). Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse. Hum. Mol. Genet. 20: 1536-1546.

Castleman V.H., Romio L., Chodhari R., Hirst R.A., de Castro S.C., Parker K.A., Ybot-Gonzalez P., Emes R.D., Wilson S.W., Wallis C., Johnson C.A., Herrera R.J., Rutman A., Dixon M., Shoemark A., Bush A., Hogg C., Gardiner R.M., Reish O., Greene N.D., O'Callaghan C., Purton S., Chung E.M., and Mitchison H.M. (2009). Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am. J. Hum. Genet. 84: 197-209.

Coon B.G., Hernandez V., Madhivanan K., Mukherjee D., Hanna C.B., Barinaga-Rementeria R., I, Lowe M., Beales P.L., and Aguilar R.C. (2012). The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Hum. Mol. Genet., e-pub.

McCabe M.J., Gaston-Massuet C., Tziaferi V., Gregory L.C., Alatzoglou K.S., Signore M., Puelles E., Gerrelli D., Farooqi I.S., Raza J., Walker J., Kavanaugh S.I., Tsai P.S., Pitteloud N., Martinez-Barbera J.P., and Dattani M.T. (2011). Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J. Clin. Endocrinol. Metab 96: E1709-E1718.

Monk D., Arnaud P., Frost J., Hills F.A., Stanier P., Feil R., and Moore G.E. (2009). Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression. Hum. Mol. Genet. 18: 3066-3074.

Narisawa A., Komatsuzaki S., Kikuchi A., Niihori T., Aoki Y., Fujiwara K., Tanemura M., Hata A., Suzuki Y., Relton C.L., Grinham J., Leung K.Y., Partridge D., Robinson A., Stone V., Gustavsson P., Stanier P., Copp A.J., Greene N.D., Tominaga T., Matsubara Y., and Kure S. (2011). Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Hum. Mol. Genet., e-pub Dec 30.

Putoux A., Thomas S., Coene K.L., Davis E.E., Alanay Y., Ogur G., Uz E., Buzas D., Gomes C., Patrier S., Bennett C.L., Elkhartoufi N., Frison M.H., Rigonnot L., Joye N., Pruvost S., Utine G.E., Boduroglu K., Nitschke P., Fertitta L., Thauvin-Robinet C., Munnich A., Cormier-Daire V., Hennekam R., Colin E., Akarsu N.A., Bole-Feysot C., Cagnard N., Schmitt A., Goudin N., Lyonnet S., Encha-Razavi F., Siffroi J.P., Winey M., Katsanis N., Gonzales M., Vekemans M., Beales P.L., and Attie-Bitach T. (2011). KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature Genet. 43: 601-606.

Robinson A., Escuin S., Doudney K., Vekemans M., Stevenson R.E., Greene N.D., Copp A.J., and Stanier P. (2012). Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum. Mutat. 33: 440-447.

Rooryck C., Diaz-Font A., Osborn D.P., Chabchoub E., Hernandez-Hernandez V., Shamseldin H., Kenny J., Waters A., Jenkins D., Kaissi A.A., Leal G.F., Dallapiccola B., Carnevale F., Bitner-Glindzicz M., Lees M., Hennekam R., Stanier P., Burns A.J., Peeters H., Alkuraya F.S., and Beales P.L. (2011). Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nature Genet. 43: 197-203.

Sribudiani Y., Metzger M., Osinga J., Rey A., Burns A.J., Thapar N., and Hofstra R.M. (2011). Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression. Gastroenterology 140: 572-582.

Developmental Biology

Ackroyd M.R., Whitmore C., Prior S., Kaluarachchi M., Nikolic M., Mayer U., Muntoni F., and Brown S.C. (2011). Fukutin-related protein alters the deposition of laminin in the eye and brain. J. Neurosci. 31: 12927-12935.

Calmont A., Ivins S., Van Bueren K.L., Papangeli I., Kyriakopoulou V., Andrews W.D., Martin J.F., Moon A.M., Illingworth E.A., Basson M.A., and Scambler P.J. (2009). Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. Development 136: 3173-3183.

Ferraz-de-Souza B., Lin L., Shah S., Jina N., Hubank M., Dattani M.T., and Achermann J.C. (2011). ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland. FASEB J. 25: 1166-1175.

Gaston-Massuet C., Andoniadou C.L., Signore M., Jayakody S.A., Charolidi N., Kyeyune R., Vernay B., Jacques T.S., Taketo M.M., Le T.P., Dattani M.T., and Martinez-Barbera J.P. (2011). Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans. Proc. Natl. Acad. Sci. U. S. A 108: 11482-11487.

Hager-Theodorides A.L., Furmanski A.L., Ross S.E., Outram S.V., Rowbotham N.J., and Crompton T. (2009). The Gli3 transcription factor expressed in the thymus stroma controls thymocyte negative selection via Hedgehog-dependent and -independent mechanisms. J. Immunol. 183: 3023-3032.

Kristiansen M., Hughes R., Patel P., Jacques T.S., Clark A.R., and Ham J. (2010). Mkp1 is a c-Jun target gene that antagonizes JNK-dependent apoptosis in sympathetic neurons. J. Neurosci. 30: 10820-10832.

Massa V., Savery D., Ybot-Gonzalez P., Ferraro E., Rongvaux A., Cecconi F., Flavell R., Greene N.D., and Copp A.J. (2009). Apoptosis is not required for mammalian neural tube closure. Proc. Natl. Acad. Sci. U. S. A 106: 8233-8238.

Outram S.V., Hager-Theodorides A.L., Shah D.K., Rowbotham N.J., Drakopoulou E., Ross S.E., Lanske B., Dessens J.T., and Crompton T. (2009). Indian hedgehog (Ihh) both promotes and restricts thymocyte differentiation. Blood 113: 2217-2228.

Pauws E., Hoshino A., Bentley L., Prajapati S., Keller C., Hammond P., Martinez-Barbera J.P., Moore G.E., and Stanier P. (2009). Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. Hum. Mol. Genet. 18: 4171-4179.

Randall V., McCue K., Roberts C., Kyriakopoulou V., Beddow S., Barrett A.N., Vitelli F., Prescott K., Shaw-Smith C., Devriendt K., Bosman E., Steffes G., Steel K.P., Simrick S., Basson M.A., Illingworth E., and Scambler P.J. (2009). Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J. Clin. Invest 119: 3301-3310.

Rix S., Calmont A., Scambler P.J., and Beales P.L. (2011). An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Hum. Mol. Genet. 20: 1306-1314.

Rowbotham N.J., Hager-Theodorides A.L., Furmanski A.L., Ross S.E., Outram S.V., Dessens J.T., and Crompton T. (2009). Sonic hedgehog negatively regulates pre-TCR-induced differentiation by a Gli2-dependent mechanism. Blood 113: 5144-5156.

Sottocornola R., Royer C., Vives V., Tordella L., Zhong S., Wang Y., Ratnayaka I., Shipman M., Cheung A., Gaston-Massuet C., Ferretti P., Molnar Z., and Lu X. (2010). ASPP2 binds Par-3 and controls the polarity and proliferation of neural progenitors during CNS development. Dev. Cell 19: 126-137.

Tomaselli S., Megiorni F., Lin L., Mazzilli M.C., Gerrelli D., Majore S., Grammatico P., and Achermann J.C. (2011). Human RSPO1/R-spondin1 is expressed during early ovary development and augments beta-catenin signaling. PLoS. One. 6: e16366.

Wang X., Chan A.K., Sham M.H., Burns A.J., and Chan W.Y. (2011). Analysis of the sacral neural crest cell contribution to the hindgut enteric nervous system in the mouse embryo. Gastroenterology 141: 992-1002.

Yates L.L., Papakrivopoulou J., Long D.A., Goggolidou P., Connolly J.O., Woolf A.S., and Dean C.H. (2010). The planar cell polarity gene Vangl2 is required for mammalian kidney-branching morphogenesis and glomerular maturation. Hum. Mol. Genet. 19: 4663-4676.

Novel diagnostics and therapies

Cirak S., Arechavala-Gomeza V., Guglieri M., Feng L., Torelli S., Anthony K., Abbs S., Garralda M.E., Bourke J., Wells D.J., Dickson G., Wood M.J., Wilton S.D., Straub V., Kole R., Shrewsbury S.B., Sewry C., Morgan J.E., Bushby K., and Muntoni F. (2011). Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 378: 595-605.

Cleary J.O., Modat M., Norris F.C., Price A.N., Jayakody S.A., Martinez-Barbera J.P., Greene N.D., Hawkes D.J., Ordidge R.J., Scambler P.J., Ourselin S., and Lythgoe M.F. (2011). Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping. Neuroimage. 54: 769-778.

Metzger M., Caldwell C., Barlow A.J., Burns A.J., and Thapar N. (2009). Enteric nervous system stem cells derived from human gut mucosa for the treatment of aganglionic gut disorders. Gastroenterology 136: 2214-2225.

Rossi C.A., Flaibani M., Blaauw B., Pozzobon M., Figallo E., Reggiani C., Vitiello L., Elvassore N., and De C.P. (2011). In vivo tissue engineering of functional skeletal muscle by freshly isolated satellite cells embedded in a photopolymerizable hydrogel. FASEB J. 25: 2296-2304.

Totonelli G., Maghsoudlou P., Garriboli M., Riegler J., Orlando G., Burns A.J., Sebire N.J., Smith V.V., Fishman J.M., Ghionzoli M., Turmaine M., Birchall M.A., Atala A., Soker S., Lythgoe M.F., Seifalian A., Pierro A., Eaton S., and De C.P. (2012). A rat decellularized small bowel scaffold that preserves villus-crypt architecture for intestinal regeneration. Biomaterials 33: 3401-3410.

Whalley K., Gogel S., Lange S., and Ferretti P. (2009). Changes in progenitor populations and ongoing neurogenesis in the regenerating chick spinal cord. Dev. Biol 332: 234-245.

Yasin S.A., Latak K., Becherini F., Ganapathi A., Miller K., Campos O., Picker S.R., Bier N., Smith M., Thom M., Anderson G., Helen C.J., Harkness W., Harding B., and Jacques T.S. (2010). Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell. Acta Neuropathol. (Berl. ) 120: 85-96.

Clinical and population studies

Barrett A.N., Zimmermann B.G., Wang D., Holloway A., and Chitty L.S. (2011). Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield. PLoS. One. 6: e25202.

Shah S.P., Taylor A.E., Sowden J.C., Ragge N.K., Russell-Eggitt I., Rahi J.S., and Gilbert C.E. (2011). Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest Ophthalmol. Vis. Sci. 52: 558-564.

Thayyil S., Cleary J.O., Sebire N.J., Scott R.J., Chong K., Gunny R., Owens C.M., Olsen O.E., Offiah A.C., Parks H.G., Chitty L.S., Price A.N., Yousry T.A., Robertson N.J., Lythgoe M.F., and Taylor A.M. (2009). Post-mortem examination of human fetuses: a comparison of whole-body high-field MRI at 9.4 T with conventional MRI and invasive autopsy. Lancet 374: 467-475.

Townsend C.L., Peckham C.S., and Tookey P.A. (2011). Surveillance of congenital cytomegalovirus in the UK and Ireland. Arch. Dis. Child Fetal Neonatal Ed 96: F398-F403.

Wright C.F. and Chitty L.S. (2009). Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing. Br. Med. J. 339: b2451.

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