65 research outputs found
Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
PurposeSomatic activating variants in the PI3K-AKT pathway cause vascular malformations with and without overgrowth. We previously reported an individual with capillary and lymphatic malformation harboring a pathogenic somatic variant in PIK3R1, which encodes three PI3K complex regulatory subunits. Here, we investigate PIK3R1 in a large cohort with vascular anomalies and identify an additional 16 individuals with somatic mosaic variants in PIK3R1.MethodsAffected tissue from individuals with vascular lesions and overgrowth recruited from a multisite collaborative network was studied. Next-generation sequencing targeting coding regions of cell-signaling and cancer-associated genes was performed followed by assessment of variant pathogenicity.ResultsThe phenotypic and variant spectrum associated with somatic variation in PIK3R1 is reported herein. Variants occurred in the inter-SH2 or N-terminal SH2 domains of all three PIK3R1 protein products. Phenotypic features overlapped those of the PIK3CA-related overgrowth spectrum (PROS). These overlapping features included mixed vascular malformations, sandal toe gap deformity with macrodactyly, lymphatic malformations, venous ectasias, and overgrowth of soft tissue or bone.ConclusionSomatic PIK3R1 variants sharing attributes with cancer-associated variants cause complex vascular malformations and overgrowth. The PIK3R1-associated phenotypic spectrum overlaps with PROS. These data extend understanding of the diverse phenotypic spectrum attributable to genetic variation in the PI3K-AKT pathway
Integrating Archaeological Theory and Predictive Modeling: a Live Report from the Scene
- Author
- A Bogaard
- A Fleming
- A Tversky
- A Weber
- A Wylie
- AM Pollard
- AR Millard
- B Ducke
- B Efron
- B Ejstrud
- B Ejstrud
- B Winterhalder
- B Winterhalder
- BN Styles
- C Rygielski
- C Tilley
- C Tilley
- CE Lunneborg
- CG Hempel
- CL Hoving
- CR Hitchcock
- D Fontijn
- D Hove Van
- D Hume
- D Kahneman
- D Metcalfe
- D Mischka
- D Wheatley
- D Wheatley
- D Zeanah
- DH Thomas
- DK Grayson
- DK Grayson
- DR Cox
- DR Cutler
- DW Bird
- DW Stephens
- E Boserup
- E Nagel
- EA Smith
- EJ Reitz
- EL Green
- F Favory
- F Gerritsen
- F Plog
- F Zimmermann
- G Barker
- G Burns
- GF Bonham-Carter
- GF Orians
- GJ Gumerman
- GL Cowgill
- GL Raines
- GR Willey
- GT Moore
- H Fokkens
- H Fokkens
- H Goodchild
- H Kamermans
- H Tschauner
- I Hodder
- J Bintliff
- J Deeben
- J Deeben
- J Pearl
- J Peters
- J Robb
- JA Bell
- JA Zeidler
- JC Barrett
- JE Ericson
- JF O’Connell
- JH Altschul
- JH Miller
- JHM Peeters
- JL Dornan
- JM Emlen
- JS Dean
- K Nackaerts
- K Popper
- KL Kvamme
- KL Kvamme
- KL Kvamme
- KL Kvamme
- KL Kvamme
- KT Jones
- KV Flannery
- L Dalla Bona
- L Mathys
- L Sebastian
- LC Levinson
- LM Raab
- LR Binford
- LR Binford
- LR Binford
- LR Binford
- M Hegmon
- M Jochim
- M Jochim
- M Leusen van
- M Leusen van
- M Llobera
- M Llobera
- M Llobera
- M Llobera
- M Shanks
- M-A Dobres
- M-A Dobres
- MA Huston
- MB Schiffer
- MF Coolbaugh
- MH Johnson
- MR Rose
- MW Lake
- N Cartwright
- N Oreskes
- N Oreskes
- N Oreskes
- N Roymans
- N Roymans
- N Roymans
- N Roymans
- P Besnard
- P Kosso
- P Kosso
- P Verhagen
- P Verhagen
- P Verhagen
- P Verhagen
- P Verhagen
- PA Finke
- PC Verhoef
- Philip Verhagen
- PM Allen
- PP Wakker
- R Ellen
- R Hames
- R Kitchin
- RE Warren
- RE Witcher
- RH MacArthur
- RK Merton
- RL Axtell
- RL Bettinger
- RL Bettinger
- RL Kelly
- RM Downs
- RM Oliver
- RW Brandt
- S Cleuziou
- SA Gregg
- SC Parker
- SR Simms
- T Carlstein
- T Harris
- T Hengl
- T Ingold
- T Ingold
- T Spek
- T Whitley
- TA Kohler
- TA Kohler
- TF King
- TG Whitley
- TG Whitley
- TG Whitley
- Thomas G. Whitley
- TJ Wilkinson
- TL Thurston
- TM Harris
- V Trifković
- W Christaller
- W Tobler
- WC Salmon
- WC Salmon
- WF Limp
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant
- Author
- AJ Takeda
- C Thauvin-Robinet
- CL Lucas
- CL Lucas
- D Aubin
- D Michalovich
- DA Dyment
- E Elkaim
- GL Dornan
- Hanadys Ale
- I Angulo
- JA Deane
- KK Chudasama
- L Heurtier
- Lourdes Ramirez
- M Avila
- M Bravo García-Morato
- M Chiriaco
- M Elgizouli
- M Klatka
- M Wentink
- MC Crank
- MC Deau
- ME Conley
- R Koenig
- RJ Gorlin
- S Kracker
- S Petrovski
- TI Coulter
- Wendy Tamayo
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
The strategic combination of trastuzumab emtansine with oncolytic rhabdoviruses leads to therapeutic synergy
- Author
- B Leyland-Jones
- C Cilliers
- C Dumontet
- C Kanthou
- CH Chung
- CJ Breitbach
- D Schrama
- DJ Slamon
- E Verri
- EL Schwartz
- G von Minckwitz
- GD Lewis Phillips
- GL Fiszman
- HJ Burstein
- JM Baron
- JS Diallo
- KA Poon
- M Bauzon
- M Lopus
- M Phan
- M Selman
- MH Dornan
- MH Kershaw
- MT Martinez
- MW Pfaffl
- N Diamantis
- N Iqbal
- R Arulanandam
- R Lyon
- S Gujar
- S Verma
- SJ Russell
- TT Junttila
- YJ Bang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
A Mathematical Model of the Phosphoinositide Pathway
- Author
- A Bononi
- A Gassama-Diagne
- A Gericke
- A MacNamara
- A Narang
- A Shewan
- C Xu
- DM Bryant
- E Delage
- EO Voit
- EO Voit
- EO Voit
- F Hsu
- G Paolo Di
- GL Dornan
- GRV Hammond
- H Currinn
- JE Purvis
- LA Volpicelli-Daley
- LE Rameh
- M Vicinanza
- M Zhang
- MA Rowland
- MA Savageau
- O Pochynyuk
- RC Boucher
- S Choi
- SJ Bulley
- T Balla
- T Balla
- T Nishioka
- T Sasaki
- Y Arai
- Y Qin
- YJ Kim
- Z Szentpetery
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Electroweak parameters of the z0 resonance and the standard model
- Author
- Abbaneo D
- ABREU P
- Adam W
- Adami F
- ADEVA B
- Adriani O
- Adye T
- Aguilar-Benitez M
- Ajaltouni Z
- Akbari H
- Akesson T
- Albanese JP
- Alcaraz J
- Alekseev GD
- Alemany R
- Alexander G
- Allen P
- Allison J
- Allport PP
- Almehed S
- Aloisio A
- Alted F
- Altoon B
- Alverson G
- Alviggi MG
- Alvsvaag SJ
- Amaldi U
- Amendolia SR
- An Q
- Anassontzis EG
- Anderhub H
- Anderson AL
- Anderson KJ
- Andreev VP
- Angelov T
- Antilogus P
- Antonelli A
- Antonov L
- Antreasyan D
- Apel WD
- Apollinari G
- Arce P
- Arcelli S
- Arefev A
- Armitage JC
- Ashman JG
- Ashton P
- Asman B
- Astbury A
- Astier P
- Atwood WB
- Aubert JJ
- Augustin JE
- Augustinus A
- Axen D
- Azemoon T
- Aziz T
- Azuelos G
- Baba PVKS
- Badier J
- Bagliesi G
- Bagnaia P
- Bahan GA
- Baillon P
- Baines JTM
- Bakken JA
- Baksay L
- Baldini R
- Ball AH
- Ball RC
- Bambade P
- Banerjee S
- Banks J
- Bao J
- Barao F
- Barberio E
- Barbiellini G
- Barczewski T
- Bardadin-Otwinowska M
- Bardin DY
- Barker GJ
- Barlow RJ
- Baroncelli A
- Barone L
- Barring O
- Bartl W
- Bates MJ
- Batignani G
- Batley JR
- Battaglia M
- Baubillier M
- Bauerdick LAT
- Bay A
- Beaudoin G
- Beck A
- Becker J
- Becker U
- Becket H
- Becks KH
- Beeston CJ
- Begalli M
- Behnke T
- Behrens J
- Beilliere P
- Beingessner S
- Belk AT
- Bell KW
- Bella G
- Bellantoni L
- Belokopytov YA
- Belokopytov YA
- Beltran P
- Beltran P
- Benchouk C
- Bencivenni G
- Bencze GL
- Benedic D
- Benedic D
- Benlloch JM
- Benlloch JM
- Berdugo J
- Berges P
- Berggren M
- Berggren M
- Bernard V
- Bertin V
- Bertrand D
- Bertrand D
- Bertucci B
- Betev BL
- Betheke S
- Beuselinck R
- Biagi SF
- Biagi SF
- Bianchi F
- Bianchi F
- Bibby JH
- Bibby JH
- Biebel O
- Biland A
- Bilenky SM
- Bilenky SM
- Billoir P
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- Binnie DM
- Bird F
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- Blaising JJ
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- Bloemeke P
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- Boehm A
- Bogolubov PN
- Bologna G
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- Bonesini M
- Bonissent A
- Bonivento W
- Bonneaud G
- Bonvicini G
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- Bosio C
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- Bossi F
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- Branson JG
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- Brock IC
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- Brown D
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- Burger JD
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- Campagne JE
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- Campion A
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- Cartwright S
- Caso C
- Castelli E
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- Catanesi MG
- Cattai A
- Cattaneo M
- Cattaneo P
- Cavallo FR
- Cerrada M
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- Cerutti F
- Cesaroni F
- Chang CY
- Chang YH
- Chapkin MM
- Charlton DG
- Charpentier P
- Chaturvedi UK
- Checchia P
- Chelkov GA
- Chemarin M
- Chen A
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- Chen HF
- Chen HS
- Chen M
- Chen ML
- Chen WY
- Chen X
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- Chevalier L
- Chiarella V
- Chiefari G
- Chien CY
- Chikilev OG
- Chliapnikov PV
- Chollet F
- Chorowicz V
- Chrin JTM
- Cinabro D
- Ciocci MA
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- Krizmanic JF
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- von Dardel G
- Von der Schmitt H
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- Vorobev I
- Vorobyov AA
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- Wang T
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- Wang YF
- Wang Z
- Wang ZM
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- Wu RJ
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- Wu SL
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- Wunsch M
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- Wyslouch B
- Xie Y
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- Xu D
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- Yeh SC
- Yekutieli G
- Yepes P
- Yin ZW
- You JM
- Yzerman M
- Zaccardelli C
- Zacharov I
- Zaitsev A
- Zalewska-Bak A
- Zalewski P
- Zehnder L
- Zemp P
- Zeng M
- Zeng Y
- Zeuner W
- Zevgolatakos E
- Zhang DH
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- Zhou JF
- Zhu RY
- Zhuang HL
- Zichichi A
- Zimin NI
- Zito G
- Zito M
- Zitoun R
- Zobernig G
- Zografou P
- Zomer F
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- Zukanovich-Funchal R
- Zumerle G
- Zuniga J
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/1992
- Field of study
Contains fulltext :
124399.pdf (publisher's version ) (Open Access
Trapping biosynthetic acyl-enzyme intermediates with encoded 2,3-diaminopropionic acid
- Author
- A Plechanovová
- A Radzicka
- AS Baker
- B Liu
- CC Tseng
- Christopher N. Boddy
- Diego A. Alonzo
- DL Akey
- DP Frueh
- Duy P. Nguyen
- GL Holliday
- Graham W. Heberlig
- HH Otto
- J Jaitzig
- J Li
- Jason W. Chin
- JB Scaglione
- JM Kavran
- JM Reimer
- JR Whicher
- JW Chin
- JW Trauger
- JZ Long
- KM Hoyer
- KN Swatek
- L Cappadocia
- L Hedstrom
- Mark H. Dornan
- ME Horsman
- Mohan Mahesh
- NA Magarvey
- Nicolas Huguenin-Dezot
- OD Ekici
- S Virdee
- SA Samel
- SD Bruner
- T. Martin Schmeing
- W Yang
- Y Lan
- Y Zhou
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
THE HADRONIC FINAL STATE IN e+ e- ANNIHILATION AT c.m. ENERGIES OF 13-GeV, 17-GeV AND 27.4-GeV
- Author
- Barlow Roger J
- Bell K W
- Binnie DM
- Boerner H
- Brandelik R
- Braunschweig W
- Buhring R
- Cashmore RJ
- Chinowsky W
- Dornan PJ
- Downie NA
- Fischer HM
- Fohrmann R
- Foster B
- Garbutt DA
- Gather K
- Hart J C
- Hartmann H
- Heyland D
- Hilger E
- Hillen W
- Hultschig H
- Illingworth J
- Jaax B
- Jones WG
- Joos P
- Kadansky V
- Knop G
- Koch W
- Korbach W
- Kotz U
- Kowalski H
- Ladage A
- Lloyd SL
- Lohr B
- Lubelsmeyer K
- Luke D
- Lynch HL
- Martyn HU
- Mikenberg G
- Notz D
- Ogg M
- Pandoulas D
- Peise G
- Poelz G
- Proudfoot J
- Pyrlik J
- Quarrie DR
- Riethmuller R
- Rimkus J
- Ringel J
- Romer O
- Roth F
- Ruhmer W
- Rusch R
- Salmon GL
- Sander HG
- Saxon DH
- Schliwa M
- Schmitz D
- Schmuser P
- Schultz von Dratzig A
- Soding P
- Trines D
- Wallraff W
- Wedemeyer R
- Wermes N
- Wiik BH
- Wolf G
- Wollstadt M
- Woodworth PL
- Youngman C
- Publication venue
- Publication date
- 01/01/1979
- Field of study
The Role of Tumor Suppressor p53 in the Antioxidant Defense and Metabolism
- Author
- A Matheu
- A Rufini
- A Villunger
- AA Sablina
- AJ Levine
- AJ Levine
- AV Budanov
- AV Budanov
- AV Budanov
- AV Budanov
- AV Budanov
- B D’Autreaux
- C Deng
- C Zhang
- CE Cano
- CJ Como Di
- CL Wei
- D Crighton
- D Dornan
- D Italiano
- D Kenzelmann Broz
- DP Lane
- DR Green
- E Kalo
- E Morselli
- E Tasdemir
- EC Cheung
- EN Pugacheva
- F Loayza-Puch
- FP Li
- FP Li
- G Achanta
- G Kroemer
- G Lahav
- G Selivanova
- GA Lang
- GL Bond
- GL Bond
- GL Semenza
- H Lee
- H Peeters
- I Ben-Sahra
- I Ben-Sahra
- J Hagenbuchner
- JC O’Connor
- JH Lee
- JH Lee
- JL Martindale
- JR Jeffers
- K Bensaad
- K Polyak
- KA Yoon
- KH Vousden
- KH Vousden
- KP Olive
- L Behrend
- LA Donehower
- M Buzzai
- M Laplante
- MA Lebedeva
- MA Reid
- MC Maiuri
- MM Mihaylova
- MY Kang
- N Kitamura
- N Sen
- N Vahsen
- OD Maddocks
- OD Maddocks
- P N’Guessan
- PA Muller
- PB Kopnin
- PY Wang
- R Bryk
- R Honda
- R Mathew
- R Reliene
- R Schubert
- R Zoncu
- RG Jones
- RJ DeBerardinis
- RP Leng
- RS Balaban
- S Essler
- S Matoba
- S Papadia
- S Suzuki
- S Velasco-Miguel
- S Wullschleger
- SH Bae
- SN Jones
- SO Lee
- SP Hussain
- T Cooks
- T Finkel
- T Ide
- T Li
- TR Peterson
- V Nogueira
- W Assaily
- W Gao
- W Hu
- WA Freed-Pastor
- WA Freed-Pastor
- X Cui
- Y Liang
- Y Xu
- YR Seo
- Z Feng
- ZA Wood
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Phosphatidylinositol 4-kinase IIIβ (PI4KB) forms highly flexible heterocomplexes that include ACBD3, 14-3-3, and Rab11 proteins
- Author
- A Baumlova
- A Eisenreichova
- A Fiser
- A Hausser
- B Barylko
- B Rozycki
- B Rozycki
- D Chalupska
- D Lu
- D Suveges
- E Boura
- E Boura
- E Boura
- E Boura
- E Boura
- E Boura
- FU Rutaganira
- GL Dornan
- HM Schaar van der
- I Gregor
- I Mejdrova
- I Mejdrova
- J Borawski
- J Fan
- J Humpolickova
- J Kofinger
- J Sasaki
- J Tan
- JA McPhail
- JE Burke
- K Hercik
- K Ishikawa-Sasaki
- K Rostislavleva
- K Taoka
- K Yang
- L Rezabkova
- M Alblova
- M Arita
- M Klima
- M Klima
- M Klima
- M Sohda
- M Wahl
- N Altan-Bonnet
- N Altan-Bonnet
- NN Sluchanko
- O Pylypenko
- P Graaf de
- P Schuck
- T Balla
- T Obsil
- TN Cordeiro
- V Obsilova
- V Obsilova
- VA Blomen
- W Peti
- X Zhao
- Y Gao
- Y Zhen
- YC Kim
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
- …