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Statistical studies have suggested a hereditary predisposition to bipolar disorder, and that predisposition has now been linked to a defect on a dominant gene located on chromosome 11.
We found that cancer proneness was directly linked to a defect in the GGR pathway of NER as both Xpa and Xpc mice developed significantly more liver tumors upon 2-AAF exposure than wild type or Csb mice.
In the early years after its discovery, doctors, at a loss to explain how bright young patients could not master the basics of reading, referred to it as "word blindness". More recently, equipped with sophisticated imaging devices, researchers have found evidence that the ailment may be linked to a defect in the brain, possibly genetic.
Duchenne muscular dystrophy, discovered by French neurologist Guillaume Duchenne in 1868, accounts for 40% of the cases of muscular dystrophy in the U.S. In 1987 it became one of the first ailments linked to a defect in a particular gene, but since then the main treatments have been limited and unable to halt the disease's devastating effects.
In our mouse model of the disease (KO), the poor skeletal muscle response to therapy is linked to a defect in the autophagic process.
The disorder has been linked to a defect of the NIS.
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An outbreak of the Zika virus that began in Brazil in April 2015 has been linked to a birth defect known as microcephaly.
Sclerosteosis-1 (SOST1: MIM 269500) is linked to a genetic defect in the SOST gene coding for sclerostin.
Increased apoptosis was previously observed upon loss of HDAC1 in human tumour cells and was linked to a mitotic defect of HDAC1 ablated tumour cells (Senese et al, 2007).
Also, deletions involving the human MWS/ LWS LCR, which contains multiple putative CRX binding sites, have been linked to a visual defect known as blue cone monochromacy in which no MWS or LWS opsins are expressed in the retina [ 40, 41].
The archetypal human disorder linked to a primary defect in mitochondrial fitness is early-onset autosomal recessive Parkinson's disease caused by loss-of-function mutations of either the PARK2 (encoding Parkin) or PARK6 (encoding PINK1) genes (Lees et al, 2009).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com