[HTML][HTML] Roles for retrotransposon insertions in human disease
DC Hancks, HH Kazazian - Mobile DNA, 2016 - Springer
Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of
transposable elements (TE) such as retrotransposons. On a shorter time scale it has been …
transposable elements (TE) such as retrotransposons. On a shorter time scale it has been …
[HTML][HTML] Restricting retrotransposons: a review
JL Goodier - Mobile DNA, 2016 - Springer
Retrotransposons have generated about 40% of the human genome. This review examines
the strategies the cell has evolved to coexist with these genomic “parasites”, focussing on …
the strategies the cell has evolved to coexist with these genomic “parasites”, focussing on …
From telomere to telomere: The transcriptional and epigenetic state of human repeat elements
Mobile elements and repetitive genomic regions are sources of lineage-specific genomic
innovation and uniquely fingerprint individual genomes. Comprehensive analyses of such …
innovation and uniquely fingerprint individual genomes. Comprehensive analyses of such …
[HTML][HTML] The complement system and human autoimmune diseases
Genetic deficiencies of early components of the classical complement activation pathway
(especially C1q, r, s, and C4) are the strongest monogenic causal factors for the prototypic …
(especially C1q, r, s, and C4) are the strongest monogenic causal factors for the prototypic …
[HTML][HTML] Complement C4, infections, and autoimmune diseases
H Wang, M Liu - Frontiers in immunology, 2021 - frontiersin.org
Complement C4, a key molecule in the complement system that is one of chief constituents
of innate immunity for immediate recognition and elimination of invading microbes, plays an …
of innate immunity for immediate recognition and elimination of invading microbes, plays an …
Active human retrotransposons: variation and disease
DC Hancks, HH Kazazian Jr - Current opinion in genetics & development, 2012 - Elsevier
Mobile DNAs, also known as transposons or 'jumping genes', are widespread in nature and
comprise an estimated 45% of the human genome. Transposons are divided into two …
comprise an estimated 45% of the human genome. Transposons are divided into two …
Initial sequence of the chimpanzee genome and comparison with the human genome
… Sequencing and Analysis Consortium Waterson Robert … - Nature, 2005 - nature.com
Here we present a draft genome sequence of the common chimpanzee (Pan troglodytes).
Through comparison with the human genome, we have generated a largely complete …
Through comparison with the human genome, we have generated a largely complete …
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
PC White, PW Speiser - Endocrine reviews, 2000 - academic.oup.com
More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to
synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic …
synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic …
LINE-1 elements in structural variation and disease
CR Beck, JL Garcia-Perez, RM Badge… - Annual review of …, 2011 - annualreviews.org
The completion of the human genome reference sequence ushered in a new era for the
study and discovery of human transposable elements. It now is undeniable that …
study and discovery of human transposable elements. It now is undeniable that …
Biology of mammalian L1 retrotransposons
EM Ostertag, HH Kazazian Jr - Annual review of genetics, 2001 - annualreviews.org
▪ Abstract L1 retrotransposons comprise 17% of the human genome. Although most L1s are
inactive, some elements remain capable of retrotransposition. L1 elements have a long …
inactive, some elements remain capable of retrotransposition. L1 elements have a long …