The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses [PDF]
, 2021 The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of the
Gardner, E, Mole, SE
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Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities [PDF]
, 2018 Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of ...
Baumer, Alessandra +9 more
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Microbiota - obesity : associations from mouth to gut across all ages [PDF]
, 2020 In this paper, we give an integrated overview of the most recent insights regarding the role of the microbiota in obesity across body-sites for different age groups based on observational and interventional data published between April 2019 and March ...
Joossens, Marie +2 more
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Living with cutis laxa: an exploratory study [PDF]
, 2020 Rare diseases, while individually uncommon, collectively may impact up to 10% of the population. This makes rare disease a major global public health issue. Most rare diseases have a genetic etiology.
Solanki, Pooja
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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis [PDF]
, 2012 Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation of autofluorescent lipopigment, neurodegeneration and premature death.
Bras, Jose +4 more
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Muscle NAD+ depletion and Serpina3n as molecular determinants of murine cancer cachexia – the effects of blocking myostatin and activins [PDF]
, 2020 Objective Cancer cachexia and muscle loss are associated with increased morbidity and mortality. In preclinical animal models, blocking activin receptor (ACVR) ligands has improved survival and prevented muscle wasting in cancer cachexia without an ...
Ballarò, Riccardo +12 more
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Severe Phenotype of De Barsy Syndrome in Two Siblings with Novel Mutations in the ALDH18A1 Gene
Journal of Clinical & Medical Genomics, 2017 De Barsy syndrome is a rare autosomal recessive genetic disorder characterized by growth retardation, intellectual disability, a prematurely-aged appearance (progeroid features) and loose skin (cutis laxa) as well as eye abnormalities and others. Some cases of de Barsy syndrome have been linked with mutations PYCR1 or ALDH18A1.
Smigiel R +8 more
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Multimodale Bildgebung in der pädiatrischen Onkologie [PDF]
, 2013 The evaluation of multimodal imaging in paediatric oncology is the main theme of this thesis. Both published studies evaluate 18F-fluorodesoxyglucose positron emission tomography (18FFDG-PET) combined with an additional imaging modality in paediatric ...
Melzer, Henriette Ingrid
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Diagnosis and Treatment of Pre-Mature Aging Disease and Conditions: A Review [PDF]
The process of aging is natural and dynamic, taking place in all living cells, organs, and organisms. The irreversible process is considered typical until it happens within a specified timeframe. Pathological age-related conditions include syndromes like
Aprajita Dhawan, Shrutika Goel
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Significance of serum Myostatin in hemodialysis patients [PDF]
, 2019 Background: Malnutrition and muscle wasting are common in haemodialysis (HD) patients. Their pathogenesis is complex and involves many molecules including Myostatin (Mstn), which acts as a negative regulator of skeletal muscle.
Albertini, Riccardo +12 more
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