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Case Report

4 Citations

3,207 Views

12 Pages

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

Miriam Potrony,
Antoni Borrell,
Narcís Masoller,
Alfons Nadal,
Leonardo Rodriguez-Carunchio,
Karmele Saez de Gordoa Elizalde,
Juan Francisco Quesada-Espinosa,
Jose Luis Villanueva-Cañas,
Montse Pauta and
Laia Rodriguez-Revenga
+ 4 authors

J. Clin. Med.2022, 11(13), 3570;https://doi.org/10.3390/jcm11133570

21 June 2022

Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of...

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Case Report

1 Citations

2,172 Views

9 Pages

Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants

Benjamin Eurich,
Catharina Nitsche,
Margot Lau,
Britta Hanker,
Juliane Spiegler and
Guido Stichtenoth

Children2022, 9(6), 797;https://doi.org/10.3390/children9060797

28 May 2022

Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insu...

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Review

19 Citations

4,307 Views

22 Pages

Targeted Therapies and Developing Precision Medicine in Gastric Cancer

Rille Pihlak,
Caroline Fong and
Naureen Starling

Cancers2023, 15(12), 3248;https://doi.org/10.3390/cancers15123248

19 June 2023

Gastric cancer is an aggressive disease with survival remaining poor in the advanced setting. More than a decade after the first targeted treatment was approved, still only HER2, MSI and PDL-1 status have reached everyday practice in terms of guiding...

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Article

6 Citations

2,833 Views

12 Pages

Genomic Structure of the Porcine CYP19 Locus and Expression of the CYP19A3 Paralog

Jens Vanselow,
Alan J. Conley,
Cynthia J. Corbin and
Trish Berger

Genes2021, 12(4), 533;https://doi.org/10.3390/genes12040533

6 April 2021

Proper, tissue-specific regulation of CYP19, the gene encoding aromatase, the key enzyme of estrogen synthesis, is essential for reproductive processes. Here, we analyzed transcriptional regulation of the porcine CYP19 in female and male gonads and b...

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