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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Silvia Martin-Almedina
Kazim Ogmen
Pia Ostergaard
ResearchOpen Access16 Apr 2021
Genetics in Medicine

Volume: 23, P: 1315-1324
Further characterisation of immortalised human lymphatic endothelial cells to explore their transcriptomic profile and VEGFC response

Kazim Ogmen
Ruby Moy
Silvia Martin-Almedina
ResearchOpen Access13 Dec 2025
Scientific Reports

Volume: 15, P: 1-16
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Primary lymphoedema can lead to the swelling of the extremities and facial dysmorphism. Here the authors present evidence that compound heterozygous and homozygous mutations inPIEZO1result in an autosomal recessive form of generalised lymphatic dysplasia.

Elisavet Fotiou
Silvia Martin-Almedina
Pia Ostergaard
ResearchOpen Access03 Sept 2015
Nature Communications

Volume: 6, P: 1-6
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Elisavet Fotiou
Silvia Martin-Almedina
Pia Ostergaard
Amendments and CorrectionsOpen Access26 Apr 2019
Nature Communications

Volume: 10, P: 1
P-selectin mobility undergoes a sol-gel transition as it diffuses from exocytosis sites into the cell membrane

P-selectin recruits leucocytes to regions of blood vessel damage. Using single molecule imaging, we find newly secreted P-selectin spreads rapidly across the plasma membrane and then becomes immobilized and better-suited to leucocyte capture.

Nicola Hellen
Gregory I. Mashanov
Tom Carter
ResearchOpen Access31 May 2022
Nature Communications

Volume: 13, P: 1-11
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Silvia Martin-Almedina
Kazim Ogmen
Pia Ostergaard
Amendments and CorrectionsOpen Access26 May 2021
Genetics in Medicine

Volume: 23, P: 1376-1377

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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Further characterisation of immortalised human lymphatic endothelial cells to explore their transcriptomic profile and VEGFC response

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

P-selectin mobility undergoes a sol-gel transition as it diffuses from exocytosis sites into the cell membrane

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Further characterisation of immortalised human lymphatic endothelial cells to explore their transcriptomic profile and VEGFC response

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

P-selectin mobility undergoes a sol-gel transition as it diffuses from exocytosis sites into the cell membrane

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

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