Results 61 to 70 of about 129,927 (262)

Upper limb peripheral neuropathy in sickle cell anemia: MR neurography appearances

Indian Journal of Radiology and Imaging, 2019
Sickle cell anemia is an inherited disorder with many systemic complications. Peripheral neuropathy related to this disorder has been sparsely reported.
Feng Poh, Rocco Hlis, Avneesh Chhabra
doaj   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Inherited metabolic disorders in Cyprus

Molecular Genetics and Metabolism Reports
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of Biochemical Genetics for the whole island facilitated the creation of a national registry for IMD.
Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou   +17 more
openaire   +3 more sources

Metabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolism. [PDF]

Orphanet J Rare Dis, 2023
Qiu Y, Su M, Xiao X, Zhou D, Xie L.
europepmc   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays

Biomolecules
Inherited platelet disorders (IPDs) are a group of rare conditions affecting platelet number, function, or both. Clinical manifestations vary widely, from asymptomatic cases to patients with severe bleeding, syndromic features, or early-onset blood ...
Ana Sánchez-Fuentes, Juliana Pérez-Botero, José M. Bastida, José Rivera   +3 more
doaj   +1 more source

Familial myelodysplastic syndromes: a review of the literature

Haematologica, 2011
Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general.
Elena Liew, Carolyn Owen
doaj   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B₁₂. [PDF]

Clin Epigenetics, 2022
Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL.   +21 more
europepmc   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source