E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1
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DOI: 10.1007/s10875-020-00749-y
Abstract: Activated PI3Kδ syndrome 1 is a primary immunodeficiency disease, usually caused by heterozygous mutations in PIK3CD. We aimed to identify the cause of homozygous mutation at c.G3061A (p.E1021K) in a patient and the effect of… read more here.
Keywords: mutation pik3cd; homozygous mutation; activated pi3k; e1021k homozygous ... See more keywords
Segregation of genetic chimeras generated by CRISPR/Cas9 system in rice
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DOI: 10.1007/s11816-018-0508-5
Abstract: CRISPR/Cas9 system based on the adaptive immune system of bacteria is an emerging powerful technique of genome editing. Previously, we showed that transgenic rice transformed with a recombinant CRISPR/Cas9-OsJAZ9 binary plasmid display genetic chimerism in… read more here.
Keywords: homozygous mutation; crispr cas9; heterogeneous mutation; mutation ... See more keywords
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurogenetics"
DOI: 10.1080/01677063.2018.1476510
Abstract: Abstract Biallelic mutations in the SLC1A4 gene have been identified as a very rare cause of neurodevelopmental disorders. l-serine transport deficiency has been regarded as the causal molecular mechanism underlying the neurological phenotype of SLC1A4… read more here.
Keywords: epileptic encephalopathy; congenital microcephaly; video; homozygous mutation ... See more keywords
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos
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DOI: 10.1093/hmg/ddy144
Abstract: Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal syndrome. Causal mutations have… read more here.
Keywords: frem2 causes; homozygous mutation; arg2167trp; arg2167trp frem2 ... See more keywords
Introduction of an ancient founder glycoprotein VI mutation into the Chilean population
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DOI: 10.1182/bloodadvances.2022008531
Abstract: The immunoglobulin glycoprotein VI (GPVI) is a major signaling receptor on platelets for collagen, fi brin, and fi brinogen. 1 There have been 3 reports of inheritable mutations in the GP6 gene, 2 describing single… read more here.
Keywords: founder; glycoprotein; introduction ancient; homozygous mutation ... See more keywords
Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report
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DOI: 10.12998/wjcc.v8.i18.4252
Abstract: BACKGROUND Gitelman syndrome (GS) is an unusual, autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is caused by mutations in the solute carrier family 12 member 3 (SLC12A3) gene resulting… read more here.
Keywords: rare homozygous; homozygous mutation; slc12a3 gene; gene ... See more keywords
Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Chinese Infant with PRF1 Homozygous Mutation: a Case Report.
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DOI: 10.7754/clin.lab.2019.191136
Abstract: BACKGROUND Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes. Familial HLH (fHLH) is an autosomal recessive disease. METHODS We report a case of fHLH in… read more here.
Keywords: hemophagocytic lymphohistiocytosis; report; homozygous mutation; hlh ... See more keywords