59 research outputs found
Sox4 mediates Tbx3 transcriptional regulation of the gap junction protein Cx43
- Author
- A Marchler-Bauer
- A Remenyi
- A Restivo
- A Visel
- A Wessels
- A. F. Moorman
- AA Avilion
- AFM Moorman
- B Chatterjee
- BG Bruneau
- BL Black
- C. J. J. Boogerd
- CD Scharer
- CJ Boogerd
- CW Lo
- DL Chapman
- DS Sohal
- EA Packham
- EH Hur
- F. Tessadori
- G Robertson
- GY Huang
- H Linden
- I Ribeiro
- J Ya
- J. Bakkers
- JJL Jacobs
- JR Chen
- K Mesbah
- K Waldo
- KJ Boogerd
- L Dupays
- L. Y. E. Wong
- LA Boyer
- LA Naiche
- M Aaboe
- M Goldsworthy
- M Wegner
- M. L. Bakker
- M. van den Boogaard
- ME Lingbeek
- MH Werner
- ML Bakker
- MTM Mommersteeg
- MW Schilham
- N Kalcheva
- P Dy
- P. A. C. ‘t Hoen
- P. Barnett
- PEMH Habets
- R Dobrowolski
- S Ferrari
- S Liu
- S Prince
- S Wissmuller
- SB Danik
- T Camarata
- TR Brummelkamp
- V. M. Christoffels
- VM Christoffels
- VM Christoffels
- W Fan
- W Yarosh
- WE Li
- WM Hoogaars
- WMH Hoogaars
- WMH Hoogaars
- WMH Hoogaars
- WT Aanhaanen
- X Xu
- Y Hiroi
- Y Kamachi
- Y-L Liao
- Publication venue
- SP Birkhäuser Verlag Basel
- Publication date
- 01/01/2011
- Field of study
Tbx3, a T-box transcription factor, regulates key steps in development of the heart and other organ systems. Here, we identify Sox4 as an interacting partner of Tbx3. Pull-down and nuclear retention assays verify this interaction and in situ hybridization reveals Tbx3 and Sox4 to co-localize extensively in the embryo including the atrioventricular and outflow tract cushion mesenchyme and a small area of interventricular myocardium. Tbx3, SOX4, and SOX2 ChIP data, identify a region in intron 1 of Gja1 bound by all tree proteins and subsequent ChIP experiments verify that this sequence is bound, in vivo, in the developing heart. In a luciferase reporter assay, this element displays a synergistic antagonistic response to co-transfection of Tbx3 and Sox4 and in vivo, in zebrafish, drives expression of a reporter in the heart, confirming its function as a cardiac enhancer. Mechanistically, we postulate that Sox4 is a mediator of Tbx3 transcriptional activity
Incidence and risk factors of delirium in multi-center Thai surgical intensive care units: a prospective cohort study
- Author
- American Psychiatric Association
- B Rompaey Van
- BA Khan
- C Ritter
- CW Hogue
- E Vittinghoff
- EB Milbrandt
- EM Angles
- ER Marcantonio
- EW Ely
- J Barr
- J Salluh
- K Chittawatanarat
- K Franco
- L Ansaloni
- L Han
- LE Vaurio
- LS Rasmussen
- M Aldemir
- M Boogaard van den
- ML Gunther
- N Bergeron
- N Stocchetti
- P Pandharipande
- P Pandharipande
- PP Pandharipande
- RB Serafim
- RD Sanders
- S Ouimet
- SM Lin
- T Robinson
- T Yamaguchi
- TG Fong
- TM Hemmerling
- Y Sugasawa
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)
- Author
- Abbott TE
- Abdallah RI
- Abdel-Aal IR
- Abdelmonem SA
- Abdo WF
- Abellan AN
- Abellán AN
- Abellán AN
- Abellán AN
- Abrams ST
- Ackerley C
- Acuña M
- Adda M
- Adhikari NK
- Adriano G
- Adrie C
- Affatato R
- Affatato R
- Afonso-Rivero D
- Agarossi A
- Agarwal LK
- Ageeva T
- Agrawal R
- Aguayo-DeHoyos E
- Aguilar AL
- Aguilar-Alonso E
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- Aguilar-Alonso E
- Aguirregabyria M
- Ahmadnia E
- Ahn C
- Ahn JY
- Ahn JY
- Ahn MY
- Ahn MY
- Aitken LM
- Akalaev R
- Akbarzadeh A
- Akcan-Arikan A
- Akhlagh SH
- Akhtar N
- AKI Research Group
- Akiduki N
- Akin S
- Akizuki N
- Akkoc T
- Ala-Kokko T
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- Albaiceta GM
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- Hwang GS
- Ibañes PG
- Ibsen M
- Idei M
- Idei M
- Idone FA
- Iesu E
- Iesu E
- Iglesias-Santiago A
- Ignacio ML
- Iida A
- Iijima H
- Ilan R
- Ilyina V
- Imanaka H
- Inaloo S
- Ince C
- Iotti GA
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- Iotti GA
- IPREA Study Group
- Irazabal JM
- Irazabal JM
- Ishimatsu S
- Itenov TS
- Iwamoto M
- Izawa M
- Izdes S
- Jaber S
- Jacky A
- Jacobs FM
- Jacques T
- Jaffal K
- Jamali S
- Jang BH
- Janotka M
- Janotka M
- Janotka M
- Jansen D
- Jansen N
- Japan Septic Disseminated Intravascular Coagulation (JSEPTIC DIC) study group
- Jardim JJ
- Jardim M
- Jareño A
- Javadpour S
- Jayasinghe S
- Jean-Baptiste S
- Jean-Baptiste S
- Jensen AE
- Jensen JU
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- Jeon YD
- Jeong IY
- Jeong IY
- Jeong WY
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- Jian Z
- Jiao LR
- Jibaja M
- Jimenez-Herrera MF
- Jiménez GJ
- Jo YH
- Joachim J
- Jochmans S
- John G
- Jonas M
- Jonas M
- Jonas M
- Jones C
- Joshi R
- Joshi V
- Jovaisa T
- JSEPTIC (Japanese Society of Education for Physicians and Trainees in Intensive Care) Clinical Trial Group
- Juan WC
- Juanas CA
- Judickas S
- Juez A
- Juliarena A
- Jun IG
- Jun IG
- Jung K
- Jung KW
- Junior JM
- Kaczirek K
- Kaese S
- Kalani N
- Kalenka A
- Kalfon P
- Kamali E
- Kaminsky GE
- Kaneko M
- Kang M
- Kang M
- Kang PL
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- Kang Y
- Kao KC
- Kappler F
- Kara A
- Karachi F
- Karanjia N
- Karbing DS
- Karsten E
- Kasdan H
- Kashiya S
- Kashyap R
- Katabami K
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- Katira BH
- Kavanagh BP
- Kawamura N
- Kawano S
- Kay FU
- Kayaaslan B
- Kayambu G
- Kazutoshi F
- Ke MW
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- Kellner F
- Kelly JM
- Kenardy J
- Keough E
- Kerhuel L
- Kerr C
- Kezyte G
- Khadjibaev A
- Khaliq W
- Khine H
- Kim DJ
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- Kim KS
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- Kim MH
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- Kim W
- Kimmoun A
- King HS
- Kinnear J
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- Kirakli C
- Kirca H
- Kirman M
- Kirwan CJ
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- Klaus DA
- Kleinpell R
- Kluge S
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- Ko JI
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- Kobayashi A
- Koco E
- Kodate A
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- Kokkini S
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- Komuro T
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- Kongpolprom N
- Kooner G
- Kostalas M
- Kosuk ME
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- Kou PS
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- Kovacikova L
- Kox M
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- Kristof J
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- Kubik M
- Kubota K
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- Kunze-Szikszay N
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- Kurth T
- Kurtz P
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- Kwon HM
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- Kye YC
- Kyle UG
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- Labaune MA
- Labra C
- Lacerda P
- Laerkner E
- Lafaurie M
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- Lagonidis D
- Lagos R
- Lahmer T
- Lai CC
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- Lin KC
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- Lissonde F
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- Liu CP
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- Liu D
- Llaurado-Serra M
- Llorente B
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- Lortat-Jacob B
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- MacKay A
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- Maertens B
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- Starczewska M
- Staszewsky L
- Stauffert N
- Stella A
- Stephens T
- Stiphout C
- Stocchetti N
- Stocchetti N
- Stougianni M
- Street H
- Stretti F
- Struijs A
- Stubbs C
- Stubbs C
- Student Research Committee - Shiraz University of Medical Sciences
- Stümpfle R
- Stümpfle R
- Su F
- Su L
- Su PL
- Su PL
- Suchomel P
- Suh GJ
- Suh GJ
- Suh GJ
- Suh GY
- Suh JW
- Sullivan E
- Sun WZ
- Sun XM
- Sung D
- Suwanpasu S
- Suzuki S
- Suzuki T
- Swart M
- Sy O
- Sydow K
- Sylla P
- Sáez VC
- Sánchez B
- Sánchez B
- Sánchez EC
- Sánchez MJ
- Sánchez MJ
- Sánchez MJ
- Sánchez MJ
- Sánchez MJ
- Sánchez MJ
- Sánchez PC
- Sánchez PC
- Sánchez-Elvira LA
- Tabatabaei HR
- Tabei SH
- Taccone F
- Taccone FS
- Taccone FS
- Taccone FS
- Taccone FS
- Taccone FS
- Taccone FS
- Taccone FS
- Taggu A
- Taggu A
- Takahashi H
- Takaki S
- Takaki S
- Takeda M
- Takeda M
- Takei T
- Takei T
- Talan L
- Tamura T
- Tanaka H
- Tanaka S
- Tanaka S
- Tane N
- Tang KB
- Tang LK
- Tapia A
- Tapponnier R
- Tapponnier R
- Tapponnier R
- Tarabrin O
- Tarabrin P
- Tavazzi G
- Tavazzi G
- Teboul JL
- Telli S
- Temprano-Gómez I
- Tena SA
- Tencé N
- Terzi N
- Terzi N
- Terzi N
- Terzi N
- Thabut G
- Thabut G
- Theodorakopoulou M
- Thies P
- Thilakasiri MC
- Thomas B
- Thompson E
- Thévenin D
- Tiainen M
- Timsit JF
- Tirkkonen J
- Tirumala S
- Tjepkema-Cloostermans MC
- Tobar M
- Tofiño AL
- Toh CH
- Tokyo Womens Medical University
- Tomas E
- Tomas E
- Tomic I
- Tominaga N
- Tomás MA
- Tonelotto BF
- Tonetti T
- Tonetti T
- Topcu L
- Tormos P
- Torner MM
- Torner MM
- Torrance HD
- Torrent RL
- Torrent RL
- Torres A
- Torres E
- Torres JC
- Torriglia F
- Torriglia F
- Torriglia F
- Torsvik M
- Tosi F
- Touratier S
- Touw HR
- Toval S
- Tran N
- Trapp O
- Travierso C
- Travieso PM
- Traynor T
- Trefler S
- Trenado J
- Trenado J
- Treso-Geira M
- Trifan B
- Triulzi F
- Troeltzsch M
- Troncoso I
- Trouiller P
- Tseng CJ
- Tsirigotis P
- Tsukahara K
- Tsunano Y
- Tsunoda M
- Tsunoda M
- Tsutui T
- Tucci MR
- Tudor BA
- Tuinman PR
- Tullo L
- Turel M
- Turon R
- Twisk JW
- Törnblom S
- Ugawa T
- Ujike Y
- Ulla DV
- Ullman A
- Unal M
- Urbanaviciute I
- Uriona S
- Urli T
- Usón MC
- Vaahersalo J
- Vaara S
- Vaid N
- Vakalos A
- Valbuena BL
- Valbuena BL
- Valeiras-Valero A
- Vallecoccia MS
- Vallejo-Báez J
- Vallverdu M
- Vallverdu M
- Vallverdú I
- Vallés J
- van den Boogaard M
- van der Heiden ES
- van der Hoeven JG
- van der Hoeven JG
- van der Voort PH
- van Galen T
- van Ieperen SN
- Van Logten T
- van Nes M
- van Putten MJ
- van Thiel RJ
- van Wijk A
- Vandijck D
- Vaneker I
- Vanhuyse F
- Vaporidi K
- Vaquerizo C
- Varas GM
- Varas JL
- Varea MM
- Vargiolu A
- Varma A
- Varpula T
- Vatsik MV
- Vazquez D
- Vedage D
- Vega LM
- Veigas P
- Vela JL
- Velasquez T
- Venkatesan K
- Venn R
- Venn R
- Venot M
- Venrdramin A
- Ventura-Rosado A
- Vergani G
- Verginella F
- Verhaeghe R
- Verhage R
- Vermeir P
- Veronesi M
- Vezzani A
- Vezzani A
- Vianna G
- Viciana R
- Vidal A
- Vidal MV
- Vidal MV
- Viegas E
- Vieillard-Baron A
- Vieira JE
- Viera MA
- Viera MA
- Vigne C
- Villa G
- Villa P
- Villalba D
- Villamizar PR
- Villamizar PR
- Villanova M
- Villard I
- Villarreal E
- Villarreal E
- Vincent B
- Vincent JL
- Vincent JL
- Vincent JL
- Vincent JL
- Vincent JL
- Vincent JL
- Vincent JL
- Vinje LJ
- Vinsonneau C
- Vitaller S
- Vittone F
- Vogelaers D
- Voiriot G
- Volker T
- Volta CA
- Volta CA
- Vondrakova D
- Vondrakova D
- Vondrakova D
- Vong LV
- Vourli S
- Vrettou C
- Vucic M
- Vázquez CF
- Vázquez CF
- Wada T
- Wada T
- Wada T
- Wada T
- Waldauf P
- Wand S
- Wang CH
- Wang H
- Wann SR
- Wann SR
- Wann SR
- Wann SR
- Wathanawatthu T
- Wee S
- Welte T
- Welters I
- Wetz A
- Weyer CM
- White C
- Wiesner O
- Wijayatilake DS
- Wildenberg L
- Wilks M
- Wilson ME
- WIND study group
- WIND study group
- WIND study group
- Winder-Rhodes S
- Witter T
- Wolf M
- Wolff M
- Wong Y
- Wood B
- Wood CA
- Wood D
- Wood M
- Wray J
- Xie Z
- Xini A
- Xini A
- Xiol EA
- Xu M
- Yager T
- Yaguchi A
- Yaguchi A
- Yamaguchi O
- Yamaguchi O
- Yamaguchi Y
- Yamaguchi Y
- Yamamoto H
- Yamamoto N
- Yaman G
- Yamashita K
- Yamazaki A
- Yan WW
- Yan WW
- Yang JH
- Yang JS
- Yang YL
- Yasuda H
- Yatabe T
- Yebenes JC
- Yeh YC
- Yemets H
- Yergaliyeva A
- Yılmaz G
- Yilmazer F
- Yodice P
- Yokoyama M
- Yonis H
- Yonis H
- Yonis H
- Yoon SZ
- Yoruk F
- Yoshida K
- Yoshida T
- Yoshida T
- Yoshida T
- Yoshida T
- Yoshihiro S
- Yoshitake E
- You KM
- Youn AM
- Young A
- Yu KM
- Yumoto T
- Yuzawa J
- Yuzawa J
- Zabaletta WJ
- Zabini D
- Zahorec M
- Zaien I
- Zakynthinos S
- Zanello M
- Zani D
- Zarantonello F
- Zayas B
- Zepeda EM
- Zeroual N
- Zerva L
- Zhang J
- Zhou JC
- Zhou JC
- Zhou JX
- Zhovnir V
- Zibandah N
- Zijlstra F
- Zimmerman J
- Zogheib E
- Zogheib E
- Zogheib E
- Zullino V
- Zwaag J
- Zýková I
- Álvarez JT
- Álvarez-Lerma F
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2016
- Field of study
Meeting abstrac
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts
- Author
- A Derijcke
- A Dostal
- A Jugessur
- A Mansukhani
- A Minden
- A Ridley
- A Sasaki
- A Schenck
- A Schenck
- AB Keeler
- AC Lidral
- AJ Dickinson
- AJ Ridley
- AO Wilkie
- AR Abrishamchian
- AR Quinlan
- AR Vieira
- AR Vieira
- AR Vieira
- AT Vulto-van Silfhout
- B Hoang
- B Langmead
- BH Hoang
- BM Riley
- C Dode
- C Dravet
- C Parada
- C Wentzel
- CA Garcia-Dominguez
- Carine E. L. Carels
- CC Lee
- DE O’Brien
- DF Wyszynski
- DR FitzPatrick
- E Bragin
- E Fera
- E Kalay
- E Villamor
- EA Lindsay
- EE Evers
- EJ Leslie
- EL Abel
- EM Strehle
- ER Ballou
- ES Williams
- EY Shin
- F Ding
- F Erdogan
- F Rahimov
- Federica Conte
- G Dobreva
- G Izzo
- G Kamel
- G Spurlock
- G Zhao
- GL Wehby
- GM Cooper
- H Miki
- H Wang
- H Yagi
- HL Szabo-Rogers
- HM Poppleton
- HR Wang
- Huiqing Zhou
- I Gross
- I Stec
- IC Welsh
- J Celli
- J Didsbury
- J Lim
- J Little
- J Murthy
- J Newbern
- J Souza
- J Suazo
- JA Britto
- JA McGrath
- JC Adams
- JC Adams
- JC Barber
- JG Lee
- Jill Dixon
- JJ Louw
- JK Rainger
- JK Westwick
- JR MacDonald
- JY Lin
- K Asanuma
- K Giehl
- K Ireton
- K Lin
- K Matsumura
- K Mitchell
- K Nagata
- K Shimizu
- K Takahashi
- K Takahashi
- KB Sylvestersen
- L Menard
- L Suo
- L Torres-Juan
- LH Goodnough
- M Anitei
- M Fukata
- M Mulatinho
- M Shi
- M Zollino
- M Zollino
- MA Canfield
- MA Crowley
- MA Ignelzi Jr
- MA Shkoukani
- Martin Oti
- MG Bari di
- MI Love
- Michele Rubini
- MJ Boogaard van den
- MJ Dixon
- ML Marazita
- MT Cobourne
- N Core
- N Funato
- N Leeuw de
- N Seto-Salvia
- N Srivastava
- N Takegahara
- NM Maas
- O Britanova
- P Billuart
- P Leoyklang
- P Lito
- PA Jezewski
- PA Mossey
- PA Pennisi
- PG Heyworth
- PG Polakis
- PN Robinson
- PS Thomas
- Q Tang
- R Das Chakraborty
- R Moore
- RG Munger
- RP Strauss
- S Ando
- S Birnbaum
- S Demczuk
- S Deng
- S Eden
- S Hernandez-Diaz
- S Johansson
- S Kanazawa
- S Kondo
- S Kurisu
- S Kuroda
- S Liu
- S Rubeis De
- S Schlickum
- S Singh
- S Suzuki
- SB Herman
- SB Ng
- SB Ng
- SJ Assinder
- T Chatterji
- T Frebourg
- T Kubo
- T Madura
- T Nakamura
- T Nikopensius
- T Nishiwaki
- T Porntaveetus
- T Sahoo
- T Sasaki
- T Song
- T Tamura
- T Yamamoto
- TA Jackson
- TB Davidson
- TH Beaty
- TH Beaty
- TJ Wright
- TJ Wright
- TM Zucchero
- TY Heinonen
- U Schmitz
- W Liu
- W Reardon
- X He
- X Yang
- Y Katoh
- Y Li
- Y Suzuki
- Y Wang
- Y Yigzaw
- Z Zhang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
A post-transplant person:narratives of heart or lung transplantation and intensive care unit delirium
- Publication venue
- 'SAGE Publications'
- Publication date
- 01/07/2014
- Field of study
Exploring patients' narratives can lead to new understandings about perceived illness states. Intensive Care Unit delirium is when people experience transitory hallucinations, delusions or paranoia in the Intensive Care Unit and little is known about how this experience affects individuals who have had a heart or lung transplant. A total of 11 participants were recruited from two heart and lung transplant services and were invited to tell their story of transplant and Intensive Care Unit delirium. A narrative analysis was conducted and the findings were presented as a shared story. This shared story begins with death becoming prominent before the transplant: 'you live all the time with Mr Death on your shoulder'. Following the operation, death permeates all aspects of dream worlds, as dreams in intensive care 'tunes into the subconscious of your fears'. The next part of the shared story offers hope of restitution; however, this does not last as reality creeps in: 'I thought it was going to be like a miracle cure'. Finally, the restitution narrative is found to be insufficient and individuals differ in the extent to which they can achieve resolution. The societal discourse of a transplant being a 'gift', which gives life, leads to internalised responsibility for the 'success' or 'failure' of the transplant. Participants describe how their experiences impact their sense of self: 'a post-transplant person'. The clinical implications of these findings are discussed
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
- Author
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- Field of study
Moving Beyond Directly Observed Therapy for Tuberculosis
- Author
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
A specific requirement for PDGF-C in palate formation and PDGFR-α signaling
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model
- Author
- A Dandapat
- A Uezumi
- AW Joe
- CP Trevisan
- D Bosnakovski
- D Gabellini
- D Gabellini
- E Beaudoing
- GJ Block
- GW Padberg
- J Gabriels
- JC Deenen
- JC Deutekom van
- JC Greef de
- JE Heredia
- JL Whiddon
- K Hochedlinger
- L Snider
- LN Geng
- M Dixit
- M Iacovino
- ML Boogaard van den
- N Ieronimakis
- P Dmitriev
- P Rao
- PG Overveld van
- RJ Lemmers
- RJ Lemmers
- SH Choi
- SM Greising
- TA Meyers
- TI Jones
- W Zeng
- YD Krom
- Z Yao
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
AN OPTIMIZATION PROBLEM FOR A PRODUCTION SYSTEM WITH REAL OPTION APPROACH (Nonlinear Analysis and Convex Analysis)
- Author
- A Manichaikul
- A McKenna
- A Sugathan
- Alain Verloes
- Alexandra Silva
- Alexei Stortchevoi
- AM Lindgren
- Angela E Lin
- Angela Lek
- Angela M Kaindl
- Anita Rauch
- AR Niederriter
- AR Quinlan
- AT Timberlake
- AV Gendrel
- AW Mould
- B Petersen
- B Schmidt-Sidor
- Bart L Loeys
- BD Solomon
- Benjamin B Currall
- Benjamin Brasseur
- BL Aken
- BL Hogan
- C Liu
- C Rohde
- C Steven
- C-H Cho
- CA Albers
- Catarina M Seabra
- Chie-Hee Cho
- Christina Jacobsen
- Claudia Cesaretti
- CM Weemaes
- Colby Chiang
- Cynthia C Morton
- D Lederer
- Daisuke Sato
- Daniel Macarthur
- David R FitzPatrick
- Diane Lucente
- Donncha S Dunican
- DS DeLuca
- E Abraham
- E Cerami
- E Kague
- Eric C Liao
- Erica E Davis
- GA Van der Auwera
- H Li
- H Thiele
- Harrison Brand
- Hemant Bengani
- I Blumenthal
- Ianina Scheer
- IF Fokkema
- IS Parhar
- J Chen
- J Gao
- J Sharpe
- J Yang
- Jacqueline K Rainger
- James F Gusella
- Janet E Hall
- Jason R Willer
- JC de Greef
- JC van Deutekom
- Jeanie Tryggestad
- Jennifer R Law
- Jenny W Jing
- JF Bosma
- JG Hall
- Jill Clayton Smith
- Jodi D Hoffman
- Joe Rainger
- John M Graham
- Jose E García-Ortiz
- Joseph A Marsh
- JT Eppig
- K Chen
- K Chen
- K Wang
- Kaitlin Samocha
- Katharina Steindl
- Kathleen A Williamson
- KE Samocha
- KE Whitlock
- Klaus W Ruprecht
- Koh-ichiro Yoshiura
- L Wang
- LA Kelley
- Lacey Plummer
- Lisa A Schimmenti
- M Isrie
- M Lek
- M Martin
- M Yahyavi
- MA DePristo
- Malik Nassan
- Margaret F Lippincott
- Markus Zweier
- Masato Shino
- MD Robinson
- ME Blewitt
- ME Blewitt
- MI Love
- Michael E Talkowski
- ML van den Boogaard
- ML van den Boogaard
- Monkol Lek
- Morad Ansari
- MP Fay
- N Chassaing
- NA O'Leary
- Nalton Ferraro
- Natalie D Shaw
- Nicholas Katsanis
- Nirav Patel
- Nobuhiko Okamoto
- Orlando Perez Silva
- P Calandra
- P Lahiry
- Peter L Jones
- R Heffernan
- Ravikumar Balasubramanian
- Richard R Meehan
- RJ Lemmers
- RJ Lemmers
- RJ Lemmers
- RJ Lemmers
- RJ Lemmers
- RJ Lemmers
- RJ Lemmers
- Ryan L Collins
- Serkan Erdin
- Shahrin Pereira
- Shelagh Joss
- Stephanie B Seminara
- Steven A Moore
- Steven Chernausek
- Sylvia S Singh
- T Glaser
- T Hirano
- Takako I Jones
- Tammy Kammin
- Tatiana Pineda Buitrago
- TD Wu
- TI Jones
- TI Jones
- Veronica van Heyningen
- William F Crowley
- Wolfgang Mühlbauer
- Y Zohar
- Yu An
- Zachary A Kupchinsky
- Publication venue
- 京都大学数理解析研究所
- Publication date
- 01/04/2010
- Field of study
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism. We discovered shared mutations and comparable DNA hypomethylation patterning between these distinct disorders. CRISPR/Cas9-mediated alteration of smchd1 in zebrafish yielded arhinia-relevant phenotypes. Transcriptome and protein analyses in arhinia probands and controls showed no differences in SMCHD1 mRNA or protein abundance but revealed regulatory changes in genes and pathways associated with craniofacial patterning. Mutations in SMCHD1 thus contribute to distinct phenotypic spectra, from craniofacial malformation and reproductive disorders to muscular dystrophy, which we speculate to be consistent with oligogenic mechanisms resulting in pleiotropic outcomes
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