5 research outputs found
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/12/2020
- Field of study
International audienceObjective: To perform genotype-phenotype, clinical and molecular analysis in a large 3-generation family with autosomal dominant congenital spinal muscular atrophy.Methods: Using a combined genetic approach including whole genome scanning, next generation sequencing-based multigene panel, whole genome sequencing, and targeted variant Sanger sequencing, we studied the proband and multiple affected individuals of this family who presented bilateral proximal lower limb muscle weakness and atrophy.Results: We identified a novel heterozygous variant, c.1826T > C; p.Ile609Thr, in the DYNC1H1 gene localized within the common haplotype in the 14q32.3 chromosomal region which cosegregated with disease in this large family. Within the family, affected individuals were found to have a wide array of clinical variability. Although some individuals presented the typical lower motor neuron phenotype with areflexia and denervation, others presented with muscle weakness and atrophy, hyperreflexia, and absence of denervation suggesting a predominant upper motor neuron disease. In addition, some affected individuals presented with an intermediate phenotype characterized by hyperreflexia and denervation, expressing a combination of lower and upper motor neuron defects.Conclusion: Our study demonstrates the wide clinical variability associated with a single disease causing variant in DYNC1H1 gene and this variant demonstrated a high penetrance within this large family
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The PLAG1-GDH1 Axis Promotes Anoikis Resistance and Tumor Metastasis through CamKK2-AMPK Signaling in LKB1-Deficient Lung Cancer.
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- 04/01/2018
- Field of study
Loss of LKB1 is associated with increased metastasis and poor prognosis in lung cancer, but the development of targeted agents is in its infancy. Here we report that a glutaminolytic enzyme, glutamate dehydrogenase 1 (GDH1), upregulated upon detachment via pleomorphic adenoma gene 1 (PLAG1), provides anti-anoikis and pro-metastatic signals in LKB1-deficient lung cancer. Mechanistically, the GDH1 product α-KG activates CamKK2 by enhancing its substrate AMPK binding, which contributes to energy production that confers anoikis resistance. The effect of GDH1 on AMPK is evident in LKB1-deficient lung cancer, where AMPK activation predominantly depends on CamKK2. Targeting GDH1 with R162 attenuated tumor metastasis in patient-derived xenograft model and correlation studies in lung cancer patients further validated the clinical relevance of our finding. Our study provides insight into the molecular mechanism by which GDH1-mediated metabolic reprogramming of glutaminolysis mediates lung cancer metastasis and offers a therapeutic strategy for patients with LKB1-deficient lung cancer
Noncontinuously Binding Loop-Out Primers for Avoiding Problematic DNA Sequences in PCR and Sanger Sequencing
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
- Author
- Anne-Sophie Lia
- Annick Toutain
- Baets
- Cecile Laroche-Raynaud
- Cecile Masson
- Chan
- Farrar
- Fiorillo
- Fleury
- Frijns
- Harms
- Hertecant
- Hunter Best
- Isabelle Nelson
- Jean Michel Pedespan
- Jean-Francois Deleuze
- Juliette Nectoux
- Karima Ghorab
- Kathryn J. Swoboda
- Louis M. Viollet
- Lucie Guyant-Marechal
- Maretina
- Marie Anne Barthez
- Martinez-Carrera
- Mercuri
- Neveling
- Niu
- Oates
- Peeters
- Peeters
- Peeters
- Poirier
- Punetha
- Rong Mao
- Rudnik-Schöneborn
- Scoto
- Strickland
- Tsurusaki
- Van der Vleuten
- Weedon
- Willemsen
- Xavier Hernandorena
- Youna Ha
- Yue Si
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
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- RL Swank
- RL Wechsler
- RM Paddison
- RM Wilder
- RM Wilder
- Rodenacker
- Roncati
- Roncati
- Rosenblath
- Rossle
- RP Bergner
- RP Custer
- RP Smith
- RP Strong
- RR Grimier
- RR Grimier
- RR Sealock
- RS Banay
- RS Diaz-Rivera
- RT Clark Jr.
- RT Hewitt
- RT Johnstone
- RW Brain
- RW Gerard
- RW Gerard
- RW Thorp
- Röthig
- S Arieti
- S Benjamin
- S Bojlnov
- S Botbelo
- S Brock
- S Cobb
- S Cobb
- S Cole
- S Erlandsson
- S Genkin
- S Goldplam
- S Gordy
- S Gordy
- S Gray
- S Grzycxi
- S Handovsky
- S Hirschhorn
- S Hoffmann
- S Kahoun
- S Katzenelenbogen
- S Katzenelenbogen
- S Kubota
- S Környey
- S Környey
- S Környey
- S Környey
- S Környey
- S Környey
- S Levy
- S Litzner
- S Moeschlin
- S Moescrlin
- S Moesohlin
- S Moschini
- S Nesbitt
- S Nesbitt
- S Pap
- S Petersen
- S Pisani
- S Ruff
- S Ruff
- S Saltykow
- S Salén
- S Scheidegger
- S Scheidegger
- S Scheideoger
- S Sosxne
- S Spiegelman
- S Swaroop
- S Tolone
- S Tolone
- S Wawzonek
- S Wilson
- S Winblad
- SA Mackeith
- SA Mccounuck
- Sacerdotti
- SAK Wilson
- SAK Wilsox
- SAK Wilsox
- Salmon
- Samejuma
- Sattler
- SB Schryver
- SB Wolbach
- SB Wolbach
- SB Wortis
- SB Wortis
- SC Kasdan
- SC Swift
- Schelcher
- Schlokow
- Schnitzler
- Schnyder
- Schoute
- Schuster
- Schwalbe
- Schweinitz
- SD Ingham
- SE Gould
- SE Monroe
- Seelert
- Seelert
- Seifried
- Selbach
- Semidaloff
- SG Ross
- Shimazono
- SJ Lerro
- SL Last
- SL Wilens
- Smetana
- Smicnovicz
- SN Sarkar
- Sodré
- SP Hicks
- SP Hicks
- SP Hicks
- SP Hicks
- SP Hicks
- SP Hicks
- Spiethoff
- Spillmann
- SRH Shah
- SS Blackman Jr.
- SS Blackman Jr.
- SS Buckley
- SS Ketty
- SS Korsakow
- SS Korsakow
- SS Siengalewicz
- Steinbrinck
- Stewart
- Stiefler
- Stine
- Strong
- Stubenrauch
- Stuelp
- Stursrerg
- Störring
- Suzuki
- SW Gillman
- SW Hoobler
- SW Lmpincott
- Szczepanski
- Sézary
- T Afendulis
- T Alajouanine
- T Alajouanine
- T Alajouanine
- T Arajouanine
- T Brander
- T Broman
- T Browan
- T Ericsson
- T Kang
- T Leary
- T Lehoczky de
- T Lewis
- T Lids
- T Linz
- T Mclardy
- T Ohkuma
- T Röder-Kutsch
- T Schreuss
- T Schroeder
- T Schöndorf
- T Seldon
- T Simon
- T Sollmann
- T Spiegel
- T Sutton
- T Suzucki
- T Tanaka
- T Upners
- T Upners
- TA Gonzales
- Takasu
- Takeya-Sikô
- Takeya-Sikô
- TAL Davies
- Tarpeiner
- Tauber
- TC Butler
- TC Godwin
- TCM Young
- TD Rivers
- TD Spies
- TE Bachhuber
- TE Machella de
- TF Dixon
- TG Stewart
- TIC Storch
- TJ Fatherree
- TJ Kennedy Jr.
- TJ Putnam
- TL Althausen
- TL Duffy
- Traina
- Trimborn
- Trossarelli
- Tröger
- TS Evans
- U Bassi
- U Bassi
- U Cerletti
- U Friedeman
- U Friedeman
- U Luft
- U Mrrsutasii
- U Testa
- U Vollrate
- V Adinolfi
- V Albertini
- V Ascoli
- V Becker
- V Benoit
- V Calvo
- V Dhers
- V Fellenius
- V Gaupp
- V Kesztele
- V Koszler
- V Lachnpt
- V Leigheb
- V Meduna
- V Menon
- V Moellendorff
- V Monakow
- V Plavec
- V Tschisch
- V Zahle
- Vas
- Velden van der
- VH Vogel
- Villaverde
- Villaverde
- Villaverde
- Villaverde
- Villaverde
- VR Mason
- VR Mason
- W Altmann
- W Anschitz
- W Arcisz
- W Arnold
- W Beiglböck
- W Berger
- W Block
- W Blume
- W Blume
- W Blume
- W Boor de
- W Brainrussel
- W Bredemann
- W Brown
- W Cone
- W Cordes
- W Dameshek
- W Dontenwill
- W Ehrhardt
- W Filehne
- W Friemann
- W Gennerich
- W Goldfarb
- W Guiljarowski
- W Hay
- W Haymaker
- W Heine
- W Heineke
- W Heineke
- W Heinichen
- W Herkel
- W Hesse
- W Heubner
- W Heubner
- W Hoerburger
- W Hortsch
- W Huecx
- W Höfer
- W Höirer
- W Kat
- W Kirschbaum
- W Klein
- W Kürbitz
- W Laubender
- W Laubmann
- W Ludwig
- W Mahoney
- W Noell
- W Noell
- W Noell
- W Noell
- W Noell
- W Palmer
- W Paulus
- W Reiml
- W Reisert
- W Riese
- W Riese
- W Roehl
- W Rotter
- W Rotter
- W Rotter
- W Rotter
- W Schclz
- W Scholz
- W Scholz
- W Scholz
- W Scholz
- W Scholz
- W Scholz
- W Scholz
- W Scholz
- W Scholz
- W Schopper
- W Schorz
- W Schulemann
- W Schwarzacher
- W Schütze
- W Souullenberg
- W Spalteholz
- W Spielmeyer
- W Spielmeyer
- W Spielmeyer
- W Spielmeyer
- W Spielmeyer
- W Spielmeyer
- W Stecher
- W Steinbrinck
- W Stepp
- W Stich
- W Stocker
- W Straub
- W Uhthoff
- W Uhthoff
- W Uhthoff
- W Uhthoff
- W Wechselmann
- W Wechselmann
- W Weigeldt
- W Weigeldt
- W Weimann
- W Weimann
- W Weimann
- W Weimann
- W Weimann
- W Weimann
- W Weimann
- W Weimann
- W Weise
- W Wild
- WA Bastedo
- WA Horwitz
- WA Jacobs
- WA Jacobs
- WA Jacobs
- Wachholz
- Wagner-Jauregg
- Wassmuth
- WB Cadwalader
- WB Chew
- WC Black
- WD Mcnally
- WD Mcnally
- WD Vögtlin
- WE Clark
- WE Dixon
- WE Loomis
- WE Machle
- Weese
- Westphal
- WF Oettingen
- WG Haynes
- WG Lennox
- WG Lennox
- WG Lennox
- WG Lennox
- WG Spuiller
- WH Büel
- WH Eddy
- WH Hill
- WH Sebrell
- WH Sebrell
- Wieil
- Wiese
- Wirth
- WJ Buchanan
- WJ Dilling
- WJ Eicke
- WJ Eicre
- WJ Horsey
- WJ Horsey
- WJ Mccardie
- WJ Turner
- WJ Waters
- WJ Waters
- WJC Verhaart
- WJC Verhaart
- WJC Verhaart
- WK Hare
- WL Craddock
- WL Lillie
- WL Ritter
- WL Vögtlin
- WL Vögtlin
- WM Stephens
- WM Yater
- WN Aldrige
- WN Bispham
- WN Kemp
- WO Umiker
- Wohlwill
- Wolkow
- WP Lawson
- WR Bowen
- WR Hess
- WR Hess
- WR Hess
- WR Murray
- WT Haverfield
- WT Oettingen
- WU Mcclenahan
- WW Jetter
- WW Jetter
- WW Woons
- Y Jacksch
- Y Okamoto
- Y Tsiminakis
- YC Chang
- Z Swetnik
- Z Wechsler
- Z Wechsler
- Zangger
- Ziegler
- Zutt
- Ä Swansson
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1958
- Field of study