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, 2021 The genetics science is less than 150 years old, but its accomplishments have been astonishing. Genetics has become an indispensable component of almost all research in modern biology and medicine.
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Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin
Biomedicines, 2022 Protein mutations may lead to pathologies by causing protein misfunction or propensity to degradation. For this reason, several studies have been performed over the years to determine the capability of proteins to retain their native conformation under ...
Rita Puglisi
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Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family [PDF]
Vojnosanitetski Pregled, 2012 Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues.
Sakač Dejan +3 more
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Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy
Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023 Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao +7 more
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Advances in CRISPR/Cas-based Gene Therapy in Human Genetic Diseases
Theranostics, 2020 CRISPR/Cas genome editing is a simple, cost effective, and highly specific technique for introducing genetic variations. In mammalian cells, CRISPR/Cas can facilitate non-homologous end joining, homology- directed repair, and single-base exchanges.
Shaomei Wu +4 more
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Association of the IL-10 gene family locus on chromosome 1 with juvenile idiopathic arthritis (JIA) [PDF]
, 2012 The cytokine IL-10 and its family members have been implicated in autoimmune diseases and we have previously reported that genetic variants in IL-10 were associated with a rare group of diseases called juvenile idiopathic arthritis (JIA). The aim of this
Bryant, A +12 more
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Italian Journal of Pediatrics, 2017 A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of pediatric ataxias.
H. Rahmoune +4 more
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New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Annual review of genomics and human genetics (Print), 2020 Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist ...
T. Hartley +5 more
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Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing
npj Genomic Medicine, 2020 Understanding causes of infant mortality shapes public health policy and prioritizes diseases for investments in surveillance, intervention and medical research.
S. Kingsmore +8 more
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Graphical chain models for the analysis of complex genetic diseases: an application to hypertension [PDF]
, 2002 A crucial task in modern genetic medicine is the understanding of complex genetic diseases. The main complicating features are that a combination of genetic and environmental risk factors is involved, and the phenotype of interest may be complex ...
Di Serio, C., Vicard, P.
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