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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Authors :Yuen M , Sandaradura SA , Dowling JJ , Kostyukova AS , Moroz N , Quinlan KG , Lehtokari VL , Ravenscroft G , Todd EJ , Ceyhan-Birsoy O , Gokhin DS , Maluenda J , Lek M , Nolent F , Pappas CT , Novak SM , D'Amico A , Malfatti E , Thomas BP , Gabriel SB , Gupta N , Daly MJ , Ilkovski B , Houweling PJ , Davidson AE , Swanson LC , Brownstein CA , Gupta VA , Medne L , Shannon P , Martin N , Bick DP , Flisberg A , Holmberg E , Van den Bergh P , Lapunzina P , Waddell LB , Sloboda DD , Bertini E , Chitayat D , Telfer WR , Laquerrière A , Gregorio CC , Ottenheijm CA , Bönnemann CG , Pelin K , Beggs AH , Hayashi YK , Romero NB , Laing NG , Nishino I , Wallgren-Pettersson C , Melki J , Fowler VM , MacArthur DG , North KN , Clarke NF
Published On :2014 Nov
Journal Article


Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.

Authors :Ek WE , Reznichenko A , Ripke S , Niesler B , Zucchelli M , Rivera NV , Schmidt PT , Pedersen NL , Magnusson P , Talley NJ , Holliday EG , Houghton L , Gazouli M , Karamanolis G , Rappold G , Burwinkel B , Surowy H , Rafter J , Assadi G , Li L , Papadaki E , Gambaccini D , Marchi S , Colucci R , Blandizzi C , Barbaro R , Karling P , Walter S , Ohlsson B , Tornblom H , Bresso F , Andreasson A , Dlugosz A , Simren M , Agreus L , Lindberg G , Boeckxstaens G , Bellini M , Stanghellini V , Barbara G , Daly MJ , Camilleri M , Wouters MM , D'Amato M
Published On :2015 Nov
Journal Article Multicenter Study


The multi-center randomized controlled trial (RCT) published by the journal of the American Medical Association (JAMA) on the effect of periodontal therapy on glycated hemoglobin (HbA1c) has fundamental problems.

Authors :Borgnakke WS , Chapple IL , Genco RJ , Armitage G , Bartold PM , D'Aiuto F , Eke PI , Giannobile WV , Kocher T , Kornman KS , Lang NP , Madianos PN , Murakami S , Nishimura F , Offenbacher S , Preshaw PM , Rahman AU , Sanz M , Slots J , Tonetti MS , Van Dyke TE
Published On :2014 Sep
Journal Article Comment


Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Authors :Haghighi A , Haack TB , Atiq M , Mottaghi H , Haghighi-Kakhki H , Bashir RA , Ahting U , Feichtinger RG , Mayr JA , Rötig A , Lebre AS , Klopstock T , Dworschak A , Pulido N , Saeed MA , Saleh-Gohari N , Holzerova E , Chinnery PF , Taylor RW , Prokisch H
Published On :2014 Aug 20
Journal Article Review


Assessment of diabetic peripheral neuropathy in streptozotocin-induced diabetic rats with magnetic resonance imaging.

Authors :Wang D , Zhang X , Lu L , Li H , Zhang F , Chen Y , Shen J
Published On :2015 Feb
Journal Article



Current concepts in the pathogenesis of traumatic temporomandibular joint ankylosis.

Authors :Yan YB , Liang SX , Shen J , Zhang JC , Zhang Y
Published On :2014 Sep 4
Journal Article Review


Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.

Authors :Goldstein JI , Jarskog LF , Hilliard C , Alfirevic A , Duncan L , Fourches D , Huang H , Lek M , Neale BM , Ripke S , Shianna K , Szatkiewicz JP , Tropsha A , van den Oord EJ , Cascorbi I , Dettling M , Gazit E , Goff DC , Holden AL , Kelly DL , Malhotra AK , Nielsen J , Pirmohamed M , Rujescu D , Werge T , Levy DL , Josiassen RC , Kennedy JL , Lieberman JA , Daly MJ , Sullivan PF
Published On :2014 Sep 4
Journal Article Multicenter Study


The diverse genetic landscape of neurodevelopmental disorders.

Authors :Hu WF , Chahrour MH , Walsh CA
Published On :2014
Journal Article Review


Crystallographic evidence of drastic conformational changes in the active site of a flavin-dependent N-hydroxylase.

Authors :Setser JW , Heemstra JR Jr , Walsh CT , Drennan CL
Published On :2014 Sep 30
Journal Article


Improved cell-free RNA and protein synthesis system.

Authors :Li J , Gu L , Aach J , Church GM
Published On :2014
Journal Article


Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Authors :Pierpont ME , Magoulas PL , Adi S , Kavamura MI , Neri G , Noonan J , Pierpont EI , Reinker K , Roberts AE , Shankar S , Sullivan J , Wolford M , Conger B , Santa Cruz M , Rauen KA
Published On :2014 Oct
Journal Article Review



The Naked Mole Rat Genome Resource: facilitating analyses of cancer and longevity-related adaptations.

Authors :Keane M , Craig T , Alföldi J , Berlin AM , Johnson J , Seluanov A , Gorbunova V , Di Palma F , Lindblad-Toh K , Church GM , de Magalhães JP
Published On :2014 Dec 15
Journal Article


Authors' response.

Authors :Gunaratnam NT , Giannobile WV
Published On :2014 Sep
Letter Comment