Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

Autor: Tsai-Jung Lu, Tzu-Hung Hsiao, Jiaan-Der Wang, Feng-Chu Lo, Pei-Pei Jhan, Wei-Chih Chen

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 62, Iss 1, Pp 175-178 (2023)

Objective: In order to figure out the cause for two consecutive fetuses with nonimmune hydrops fetalis (NIHF) in a Taiwanese couple, whole-Exome Sequencing and Sanger Sequencing were applied for the family. Case report: The two fetuses developed NIHF

Externí odkaz: https://doaj.org/article/222afb79ebd74c98ab34e29fd67fda9c

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Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives

Autor: Dhanya Yesodharan, Vivek Krishnan, Indu R. Nair, Sheela Nampoothiri, Ashraf U Mannan, Aparna Ganapathy

Publikováno v: American Journal of Medical Genetics Part A. 185:620-624

Cenani Lenz syndrome is a rare autosomal recessive disorder associated with variable degree of limb malformations, dysmorphism, and renal agenesis. It is caused due to pathogenic variants in the LRP4 gene, which plays an important role in limb and re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::51453de8df6b0835e1bdd37e3ca19ecb
https://doi.org/10.1002/ajmg.a.61971

Do not miss the (genetic) diagnosis of Gaucher syndrome: a narrative review on diagnostic clues and management in severe prenatal and perinatal-lethal sporadic cases

Autor: Anna Tylki-Szymańska, Grazina Kleinotiene, Karolina Chwiałkowska, Aleksandra Jezela-Stanek

Publikováno v: Journal of clinical medicine, Basel : MDPI, 2021, vol. 10, no. 21, art. no. 4890, p. [1-9]
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 10, Iss 4890, p 4890 (2021)

With a growing number of proved therapies and clinical trials for many lysosomal storage disorders (LSDs), a lot of hope for many patients and families exists. However, there are sometimes cases with poor prognosis, fatal outcomes when our efforts mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da75e58121c418de06ef7147170c4767
https://repository.vu.lt/VU:ELABAPDB118078514&prefLang=en_US

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Autor: Monika Oláhová, Michel Koenig, Hessa S Alsaif, Selina Reich, Claire Guissart, Silvia Azzarello-Burri, Ludger Schöls, Anita Rauch, Tuomo M Polvikoski, Pierre Meyer, Matthis Synofzik, Jack J Collier, Nicolas Leboucq, Fumi Suomi, François Rivier, Mina Ryten, Nuria Martinez-Lopez, Lise Larrieu, Suad Alyamani, Fowzan S Alkuraya, Angela Bahr, Souphatta Sasorith, Stephan Zuchner, Angela Pyle, Charu Deshpande, Inês A Barbosa, David Zhang, Andrew M. Schaefer, Thomas G McWilliams, Florence Piron-Prunier, Robert McFarland, Agnès Delahodde, Robert W. Taylor

Publikováno v: The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩

Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7