Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Veterinary Medicine and Science"
DOI: 10.1002/vms3.433
Abstract: Abstract The University of Missouri (MU) has established a colony of dystrophin‐deficient dogs with a mixed breed background to mirror the variable pathologic effects of dystrophinopathies between persons of a given kindred to further the… read more here.
Keywords: severe myodegeneration; female dog; widespread severe; compound heterozygote ... See more keywords
Compound heterozygote of Hb DIran [HBB: c.67G>C, β 22(B4) Glu>Gln] with β0-thalassemia [cds 41/42 (-CTTT)] from Eastern India
Sign Up to like & getrecommendations! Published in 2018 at "Hematology, Transfusion and Cell Therapy"
DOI: 10.1016/j.bjhh.2017.09.001
Abstract: Hereditary hemoglobinopathies, the most common monogenic hemoglobin (Hb) disorders, result in a variety of clinical consequences. It has been observed that various Hb variants and thalassemias are found common to specific ethnic groups and regions.… read more here.
Keywords: heterozygote diran; thalassemia; compound heterozygote; glu ... See more keywords
An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease- 28 carrying compound heterozygote mutations in IL10RA gene.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101577
Abstract: Induced pluripotent stem cell (iPSC) line (SDQLCHi012-A) was generated from peripheral blood mononuclear cells of an 11-month-old male who was diagnosed as inflammatory bowel disease-28 caused by compound heterozygote for IL10RA mutations (c.188 + 1G > A and c.301C > T).… read more here.
Keywords: bowel disease; line; inflammatory bowel; line sdqlchi012 ... See more keywords
An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101775
Abstract: Peripheral blood mononuclear cells for reprogramming in this work were donated by a girl with clinically and genetically diagnosed multiminicore disease harboring compound heterozygote mutations of RYR1 gene. Induced pluripotent stem cells (iPSCs) were obtained… read more here.
Keywords: ryr1 gene; multiminicore disease; heterozygote mutations; mutations ryr1 ... See more keywords
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2022.100859
Abstract: With the execution of expanded newborn screen (NBS) program nationwide, it is uncommon to see severe hyperammonemia associated with isovaleric acidemia (IVA). We present a seven-day-old boy with severe IVA complicated by hyperammonemia. This child… read more here.
Keywords: compound heterozygote; isovaleric acidemia; acid; hyperammonemia ... See more keywords
Low levels of NMNAT2 compromise axon development and survival
Sign Up to like & getrecommendations! Published in 2019 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy356
Abstract: Abstract Nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) is an endogenous axon maintenance factor that preserves axon health by blocking Wallerian‐like axon degeneration. Mice lacking NMNAT2 die at birth with severe axon defects in both the peripheral… read more here.
Keywords: compound heterozygote; low levels; mice; axon ... See more keywords
Successful outcome in a compound heterozygote haemoglobin E/beta-thalassaemia in pregnancy
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DOI: 10.1136/bcr-2022-252829
Abstract: Haemoglobin E (HbE) affects at least 1 million people around the world. The carrier frequency of HbE/beta-thalassaemia (HbE/β-thalassaemia) is highest in Southeast Asia. In India, the highest frequency is observed in the northeast region. Distinguishing… read more here.
Keywords: hbe; thalassaemia pregnancy; thalassaemia; successful outcome ... See more keywords
Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report
Sign Up to like & getrecommendations! Published in 2019 at "Croatian Medical Journal"
DOI: 10.3325//cmj.2019.60.246
Abstract: The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in… read more here.
Keywords: cystic fibrosis; fibrosis; case; compound heterozygote ... See more keywords
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12101583
Abstract: The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders. OTUD6B- and ZMIZ1-related ID are inherited in autosomal… read more here.
Keywords: intellectual disability; point mutation; zmiz1 variant; zmiz1 ... See more keywords