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Researcher
Lore Pottie
Profile
Projects
Publications
Activities
Awards & Distinctions
24
Results
2024
PTPN2 deficiency expands the monogenetic causes of dysregulated JAK/STAT signaling resulting in autoimmunity
Leslie Naesens
Bram Meertens
Lore Pottie
Marieke De Bruyne
Ciel De Vriendt
Tessa Kerre
Simon Tavernier
Filomeen Haerynck
C3
Conference
2024
The clinical use of exome sequencing to diagnose PCD patients
Lore Pottie
Sofie Symoens
Elfride De Baere
Kathleen Claes
C3
Conference
2024
2023
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
Michiel Vanhooydonck
Lore Pottie
Annekatrien Boel
Piyanoot Tapaneeyaphan
Marta Guerreiro Santana Ramos Da Silva
Adelbert De Clercq
Matthias Van Impe
Delfien Syx
Andy Willaert
Lisa Caboor
et al.
C3
Conference
2023
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
Michiel Vanhooydonck
Maxim Verlee
Lore Pottie
Annekatrien Boel
Piyanoot Tapaneeyaphan
Marta Guerreiro Santana Ramos Da Silva
Adelbert De Clercq
Lisa Caboor
Matthias Van Impe
Delfien Syx
et al.
C3
Conference
2023
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
Michiel Vanhooydonck
Maxim Verlee
Lore Pottie
Annekatrien Boel
Piyanoot Tapaneeyaphan
Marta Guerreiro Santana Ramos Da Silva
Adelbert De Clercq
Lisa Caboor
Matthias Van Impe
Delfien Syx
et al.
C3
Conference
2023
2022
Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
Lore Pottie
Christin S. Adamo
Aude Beyens
Steffen Luetke
Piyanoot Tapaneeyaphan
Adelbert De Clercq
Phil Salmon
Riet De Rycke
Alper Gezdirici
Elif Yilmaz Gulec
et al.
C3
Conference
2022
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
Christin S. Adamo
Aude Beyens
Alvise Schiavinato
Douglas R. Keene
Sara F. Tufa
Matthias Morgelin
Jurgen Brinckmann
Takako Sasaki
Anja Niehoff
Maren Dreiner
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2022
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
Michiel Vanhooydonck
Lore Pottie
Annekatrien Boel
Piyanoot Tapaneeyaphan
Marta Guerreiro Santana Ramos Da Silva
Adelbert De Clercq
Lisa Caboor
Matthias Van Impe
Andy Willaert
Patrick Sips
et al.
C3
Conference
2022
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
Michiel Vanhooydonck
Lore Pottie
Annekatrien Boel
Piyanoot Tapaneeyaphan
Marta Guerreiro Santana Ramos Da Silva
Lisa Caboor
Adelbert De Clercq
Matthias Van Impe
Andy Willaert
Patrick Sips
et al.
C3
Conference
2022
2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Lore Pottie
Christin S. Adamo
Aude Beyens
Steffen Lütke
Piyanoot Tapaneeyaphan
Adelbert De Clercq
Phil L. Salmon
Riet De Rycke
Alper Gezdirici
Elif Yilmaz Gulec
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
Lore Pottie
Christin S. Adamo
Aude Beyens
Steffen Lutke
Piyanoot Tapaneeyaphan
Adelbert De Clercq
Phil L. Salmon
Riet De Rycke
Alper Gezdirici
Elif Yilmaz Gulec
et al.
Correction
2021
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis
Aude Beyens
Lore Pottie
Patrick Sips
Bert Callewaert
Bookchapter
in
Progress in Heritable Soft Connective Tissue Diseases
2021
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)
Aude Beyens
Lore Pottie
Patrick Sips
Bert Callewaert
Bookchapter
in
Progress in Heritable Soft Connective Tissue Diseases
2021
Exploring cutis laxa syndromes in vitro and in vivo through zebrafish modeling : lessons learnt from recently and newly discovered disease-causing genes
Lore Pottie
Bert Callewaert
Patrick Sips
Dissertation
2021
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
Lore Pottie
Wouter Van Gool
Michiel Vanhooydonck
Franz-Georg Hanisch
Geert Goeminne
Andreja Rajkovic
Paul Coucke
Patrick Sips
Bert Callewaert
A1
Journal Article
in
PLOS GENETICS
2021
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
Maxim Verlee
Aude Beyens
Alper Gezdirici
Elif Gulec
Lore Pottie
Silke De Feyter
Michiel Vanhooydonck
Piyanoot Tapaneeyaphan
Sofie Symoens
Bert Callewaert
A1
Journal Article
in
GENES
2021
2020
Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome
Lore Pottie
Alper Gezdirici
Christin Adamo
William Newman
Aude Beyens
Riet De Rycke
Adelbert De Clercq
Patrick Sips
Gerhard Sengle
Bert Callewaert
C3
Conference
2020
2019
Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature
Aude Beyens
Kyaran Van Meensel
Lore Pottie
Riet De Rycke
Michiel De Bruyne
Femke Baeke
Piet Hoebeke
Frank Plasschaert
Bart Loeys
Sofie De Schepper
et al.
A1
Journal Article
in
GENES
2019
Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis
Lore Pottie
Patrick Sips
Bert Callewaert
Petra Vermassen
Hanna De Saffel
Paul Coucke
C3
Conference
2019
Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis.
Lore Pottie
Patrick Sips
Hanna De Saffel
Petra Vermassen
Paul Coucke
Bert Callewaert
C3
Conference
2019
Transcriptome and protein analysis highlight the endosomal pathway in disease pathogenesis of metabolic CL syndrome
Lore Pottie
Wouter Van Gool
Michiel Van Hooydonck
Paul Coucke
Patrick Sips
Bert Callewaert
C3
Conference
2019
2018
A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
Lore Pottie
Patrick Sips
Paul Coucke
C3
Conference
2018
A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
Lore Pottie
Patrick Sips
Paul Coucke
Bert Callewaert
C3
Conference
2018
ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
Lore Pottie
Patrick Sips
Paul Coucke
Bert Callewaert
C3
Conference
2018