TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Hematology"
DOI: 10.1002/ajh.26452
Abstract: Our study presents a novel germline c.1715G>T (p.G572V) mutation in the gene encoding Toll‐like receptor 8 (TLR8) causing an autoimmune and autoinflammatory disorder in a family with monozygotic male twins, who suffer from severe autoimmune… read more here.
Keywords: tlr8; severe autoimmune; autoimmune hemolytic; mutation causes ... See more keywords
A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Behavior"
DOI: 10.1002/brb3.1416
Abstract: Adrenomyeloneuropathy (AMN) is a rare genetic disease. In this study, a case of AMN was uncovered in a Chinese family. read more here.
Keywords: chinese family; family; novel abcd1; abcd1 gene ... See more keywords
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1874
Abstract: The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous systems. read more here.
Keywords: infantile developmental; causes infantile; mutation causes; dync1h1 mutation ... See more keywords
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2095
Abstract: To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. read more here.
Keywords: novel mutation; mutation causes; best1 novel; diversity ... See more keywords
LMNB1 mutation causes cerebellar involvement and a genome instability defect
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.06.027
Abstract: Please cite this article as: José Luiz Pedroso, Veridiana Munford, André Uchimura Bastos, Ligia Pereira de Castro, Victor Hugo Rocha Marussi, Gisele Sampaio Silva, Juliana Harumi Arita, Carlos F.M. Menck, Orlando G. Barsottini , LMNB1… read more here.
Keywords: lmnb1 mutation; cerebellar involvement; genome instability; causes cerebellar ... See more keywords
A KLF1 gene mutation causes β‐thalassemia minor in a Chinese family
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Laboratory Hematology"
DOI: 10.1111/ijlh.12788
Abstract: Sir, Krüppellike factor 1 (KLF1) is an erythroidspecific transcription factor that plays important roles in globin gene switching, erythroid lineage commitment, and erythrocyte maturation.1 Not surprisingly, the downstream effects of KLF1 mutations can result in… read more here.
Keywords: klf1 gene; family; mutation causes; gene mutation ... See more keywords
A recurrent GARS mutation causes distal hereditary motor neuropathy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Peripheral Nervous System"
DOI: 10.1111/jns.12353
Abstract: We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype ‐ motor weakness that began in late childhood, distal weakness in the arms and legs, a motor… read more here.
Keywords: causes distal; motor; gars mutation; mutation causes ... See more keywords
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy
Sign Up to like & getrecommendations! Published in 2022 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12817
Abstract: We aim to present data obtained from three patients belonging to three unrelated families with an infantile onset demyelinating neuropathy associated to somatic and neurodevelopmental delay and to describe the underlying genetic changes. read more here.
Keywords: mutation causes; trmt5 mutation; causes complex; novel trmt5 ... See more keywords
A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abf7262
Abstract: Mutations in tubulins cause distinct neurodevelopmental and degenerative diseases termed “tubulinopathies”; however, little is known about the functional requirements of tubulins or how mutations cause cell-specific pathologies. Here, we identify a mutation in the gene… read more here.
Keywords: cell; mutation causes; dominant tubulin; mutation ... See more keywords
A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors
Sign Up to like & getrecommendations! Published in 2019 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000356
Abstract: Recently, homozygous PUS7 mutations causing premature stop and truncation of the gene product were identified in 3 independent consanguineous families presenting with intellectual disability (ID), speech delay, short stature, microcephaly, and aggressive behavior.1 PUS7 encodes… read more here.
Keywords: novel pus7; intellectual disability; disability; mutation causes ... See more keywords
PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000563
Abstract: Inherited retinal dystrophies (IRD) comprise a heterogeneous group of disorders that affect visual function. IRD occur in isolated forms or in association with systemic abnormalities.1 Over 300 disease-causing genes have been identified in IRD. read more here.
Keywords: complex linked; gene mutation; linked adult; causes complex ... See more keywords