Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]
, 2008 Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo +8 more
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In silico synchronization reveals regulators of nuclear ruptures in lamin A/C deficient model cells [PDF]
, 2016 The nuclear lamina is a critical regulator of nuclear structure and function. Nuclei from laminopathy patient cells experience repetitive disruptions of the nuclear envelope, causing transient intermingling of nuclear and cytoplasmic components.
Corne, Tobias +5 more
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Mice with reduced expression of the telomere-associated protein Ft1 develop p53-sensitive progeroid traits [PDF]
, 2018 Human AKTIP and mouse Ft1 are orthologous ubiquitin E2 variant proteins involved in telomere maintenance and DNA replication. AKTIP also interacts with A- and B-type lamins.
Ana, Cumano +18 more
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Functional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy [PDF]
, 2012 Background: The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood.
Ahmad, Ferhaan +4 more
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Epigenomes in Cardiovascular Disease. [PDF]
, 2018 If unifying principles could be revealed for how the same genome encodes different eukaryotic cells and for how genetic variability and environmental input are integrated to impact cardiovascular health, grand challenges in basic cell biology and ...
McKinsey TA +4 more
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European Journal of Heart Failure, Volume 27, Issue 9, Page 1788-1792, September 2025.
Shunsuke Inoue +19 more
wiley +1 more source
Alzheimer's disease: An acquired neurodegenerative laminopathy [PDF]
Nucleus, 2016 The nucleus is typically depicted as a sphere encircled by a smooth surface of nuclear envelope. For most cell types, this depiction is accurate. In other cell types and in some pathological conditions, however, the smooth nuclear exterior is interrupted by tubular invaginations of the nuclear envelope, often referred to as a "nucleoplasmic reticulum,"
openaire +2 more sources
Editorial: Is aberrant genome organization a cause or consequence of specific diseases?
Frontiers in Cell and Developmental Biology, 2023 Eric C. Schirmer, Joanna M. Bridger
doaj +1 more source
Barrier-to-autointegration factor (BAF) involvement in prelamin a-related chromatin organization changes [PDF]
, 2015 Chromatin disorganization is one of the major alterations linked to prelamin A processing impairment. In this study we demonstrate that BAF is necessary to modulate prelamin A effects on chromatin structure.
Capanni, Cristina +7 more
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Frontiers in Genetics, 2016 Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes, LMNA, LMNB1 and LMNB2.
Jérôme D. Robin, Frederique Magdinier
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