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Human Mutation
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Papers 6106
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#1Frederike L. Harms (UHH: University of Hamburg)H-Index: 6
#2Padmini Parthasarathy (University of Otago)
Last. Suresh K. Radhakrishnan (AIMS: Amrita Institute of Medical Sciences and Research Centre)
view all 17 authors...
The family of Tre2-Bub2-Cdc16 (TBC)-domain containing GTPase activating proteins (RABGAPs) are not only known as key regulators of RAB GTPase activity, but also has GAP-independent functions. RAB GTPases are implicated in membrane trafficking pathways, such as vesicular trafficking. We report biallelic loss-of-function variants in TBC1D2B, encoding a member of the TBC/RABGAP family with yet unknown function, as the underlying cause of cognitive impairment, seizures, and/or gingival overgrowth in...
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#1Ivan P. GorlovH-Index: 21
#2Christopher I. AmosH-Index: 104
Last. Marc S. ErnstoffH-Index: 51
view all 14 authors...
We hypothesized that human genes differ by their sensitivity to UV exposure. We used somatic mutations detected by genome-wide screens in melanoma and reported in the Catalog Of Somatic Mutations In Cancer (COSMIC). As a measure of UV sensitivity, we used the number of silent mutations generated by C>T transitions in pyrimidine dimers of a given transcript divided by the number of potential sites for this type of mutations in the transcript. We found that human genes varied by UV sensitivity by ...
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#1Eugénie Dionnet (AMU: Aix-Marseille University)H-Index: 2
#2Aurelia Defour (AMU: Aix-Marseille University)H-Index: 13
Last. Svetlana Gorokhova (AMU: Aix-Marseille University)H-Index: 6
view all 9 authors...
Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often-overlooked splicing effect of missense variants, we developed the functional assay ("minigene") for the majority of exons of CAPN3, the gene responsible for Limb Girdle Muscular Dystrophy (LGMD). By systematically screening 21 missense variants distributed along the gene, we found that eight clinically relevant missense variants located at a certain dis...
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#1Simranpreet Kaur (University of Melbourne)H-Index: 1
#2Nicole J. Van Bergen (University of Melbourne)H-Index: 15
view all 23 authors...
Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of synaptic cargo, are well-recognized to cause a spectrum of neurological conditions, commonly known as KIF1A-associated neurological disorders (KAND). Here we report one mutation-negative female with classic Rett syndrome (RTT) harboring a de novo heterozygous novel variant [NP_001230937.1:p.(Asp248Glu)] in the highly-conserved motor domain of KIF1A. In addition, thre...
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#1Hsiao-Jung Kao (AS: Academia Sinica)
#2Hung-Lun Chiang (AS: Academia Sinica)H-Index: 3
Last. Ni-Chung Lee (NTU: National Taiwan University)H-Index: 25
view all 10 authors...
Full genome analysis of a young girl with deafness, dystonia, central hypomyelination, refractory seizure, and fluctuating liver function impairment revealed a heterozygous, de novo variant in the BCAP31 gene on chromosome Xq28 (NM_001256447.2:c.92G>A), mutations of which caused the X-linked recessive severe neurologic disorder DDCH (Deafness, Dystonia, and Cerebral Hypomyelination). Reverse transcription-PCR (RT-PCR) of the patient's white blood cells showed the absence of wild-type BCAP31 mRNA...
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#1Lee-Jun C. Wong (Baylor University)H-Index: 51
#2Ting Chen (BCM: Baylor College of Medicine)
Last. Victor Wei Zhang (BCM: Baylor College of Medicine)H-Index: 18
view all 11 authors...
Interpretation of mitochondrial protein-encoding (mt-mRNA) variants has been challenging due to mitochondrial characteristics that have not been addressed by ACMG guidelines. We developed criteria for the interpretation of mt-mRNA variants via literature review of reported variants, tested and refined these criteria by using our new cases, followed by interpreting 421 novel variants in our clinical database using these verified criteria. Thirty-two out of 56 previously reported pathogenic (P) va...
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#1Silvia MarchetH-Index: 14
#2Andrea LegatiH-Index: 11
Last. Daniele Ghezzi (University of Milan)H-Index: 33
view all 10 authors...
Biallelic mutations in the C1QBP gene have been associated with mitochondrial cardiomyopathy and combined Respiratory-Chain deficiencies, with variable onset (including intrauterine or neonatal forms), phenotypes and severity. We studied two unrelated adult patients from consanguineous families, presenting with Progressive External Ophthalmoplegia (PEO), mitochondrial myopathy and without any heart involvement. Muscle biopsies from both patients showed typical mitochondrial alterations and the p...
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#1Chun-An ChenH-Index: 8
#1Chun‐An Chen (Boston Children's Hospital)
Last. Madeleine Fannemel (Oslo University Hospital)H-Index: 9
view all 17 authors...
Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. CHDSKM is caused by germline mutations in ABL1. To date, three variants have been in association with CHDSKM. In this study, we describe three de novo missense variants, c.407C>T (p.Thr136Met), c.746C>T (p.Pro249Leu), and c.1573G>A (p.Val525Met), and one recurrent variant, c.1066G>A (p.Ala356Thr), in ...
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#1Insun Park (Anschutz Medical Campus)
#2Helena Hůlková (First Faculty of Medicine, Charles University in Prague)H-Index: 17
Last. Tomas Majtan (Anschutz Medical Campus)H-Index: 18
view all 6 authors...
Classical homocystinuria (HCU) is an inborn error of metabolism caused by loss of cystathionine beta-synthase (CBS) activity with concomitant buildup of homocysteine. In KO mice, a mouse model of HCU, complete lack of CBS is neonatally lethal. Administration of OT-58, an enzyme therapy for HCU, during the first five weeks of life rescued KO mice survival by preventing liver disease. Here, we studied the impact of a long-term uninterrupted OT-58 treatment or its absence beyond the neonatal period...
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#1Andrei L. TurinskyH-Index: 17
#2Sanaa ChoufaniH-Index: 24
Last. Michael BrudnoH-Index: 50
view all 8 authors...
Epigenetic processes play a key role in regulating gene expression. Genetic variants that disrupt chromatin-modifying proteins are associated with a broad range of diseases, some of which have specific epigenetic patterns, such as aberrant DNA methylation, that may be used as disease biomarkers. While much of the epigenetic research has focused on cancer, there is a paucity of resources devoted to neurodevelopmental disorders, which include autism spectrum disorder and many rare, clinically over...
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