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[Israel-centered antisemitism and the challenge of a non-antisemitic criticism of Israel: a mediation on the grounds of democratic theory].
Z Relig Ges Polit
May 2022
Institut für Politikwissenschaft, Universität Regensburg, Regensburg, Deutschland.
The important debate on Israel-centered antisemitism has currently reached an impasse. In order to contribute to the objectification of the academic and public discussion, this article proposes a differentiation between subjectively conscious and unconscious anti-semitic resentments and reformulates this distinction in terms of democratic theory. Against the background of a concept of democracy including the complex coexistence of unity and plurality in democratic societies as well as the fundamental tension between religion and popular sovereignty, it becomes available to reflect the state of Israel as a Jewish collective in a non-antisemitic way, while illustrating relevant aporias in the Middle East conflict at the same time.
View Article and Find Full Text PDFBiallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
August 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Objective: Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia is associated with >80 genes, with frequently only few affected individuals described for each gene. Herein, we characterize a large cohort of individuals with biallelic variation in ENTPD1, a gene previously linked to spastic paraplegia 64 (Mendelian Inheritance in Man # 615683).
View Article and Find Full Text PDFFurther delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Eur J Hum Genet
September 2021
Département de génétique médicale, AP-HM, Hôpital d'enfants La Timone, Marseille, France.
Article Synopsis
- The BCAP31 gene at Xq28 encodes BAP31, which is involved in transporting proteins from the endoplasmic reticulum to the Golgi apparatus, with mutations linked to severe neurological disorders in males.
- Pathogenic variants result in a spectrum of symptoms, including profound intellectual disability, dystonia, deafness, and a syndrome called deafness, dystonia, and cerebral hypomyelination (DDCH), with females often being asymptomatic or only mildly affected.
- The study identifies 17 new families with BCAP31-related conditions, confirming that males with loss-of-function variants have a more severe phenotype, while females can exhibit a range of neurological symptoms, and suggests additional complications like elevated liver enzymes in male
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
March 2021
Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address:
Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms.
View Article and Find Full Text PDFA call for global action for rare diseases in Africa.
Nat Genet
January 2020
Instituto de Investigación en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
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