journal
MENU ▼
Read by QxMD icon Read
search

Journal of Human Genetics

journal
https://www.readbyqxmd.com/read/29235540/characteristic-dysmorphic-features-in-congenital-disorders-of-glycosylation-type-iib
#1
Yoon-Myung Kim, Go Hun Seo, Euiseok Jung, Ja-Hyun Jang, Sook Za Kim, Beom Hee Lee
Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG...
December 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29208948/a-novel-mutation-in-slc1a3-causes-episodic-ataxia
#2
Kazuhiro Iwama, Aya Iwata, Masaaki Shiina, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Shuichi Ito, Takeshi Mizuguchi, Naomichi Matsumoto
Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these eight subtypes (EA1, EA2, EA5, and EA6). To date, only four missense mutations in the Solute Carrier Family 1 Member 3 gene (SLC1A3) have been reported to cause EA6. SLC1A3 encodes excitatory amino-acid transporter 1, which is a trimeric transmembrane protein responsible for glutamate transport in the synaptic cleft. In this study, we found a novel missense mutation, c...
December 5, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29208947/the-y-chromosome-haplogroup-c3-f3918-likely-attributed-to-the-mongol-empire-can-be-traced-to-a-2500-year-old-nomadic-group
#3
Ye Zhang, Xiyan Wu, Jiawei Li, Hongjie Li, Yongbin Zhao, Hui Zhou
The Mongol Empire had a significant role in shaping the landscape of modern populations. Many populations living in Eurasia may have been the product of population mixture between ancient Mongolians and natives following the expansion of Mongol Empire. Geneticists have found that most of these populations carried the Y-haplogroup C3* (C-M217). To trace the history of haplogroup (Hg) C3* and to further understand the origin and development of Mongolians, ancient human remains from the Jinggouzi, Chenwugou and Gangga archaeological sites, which belonged to the Donghu, Xianbei and Shiwei, respectively, were analysed...
December 5, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29203824/genetic-engineering-in-nonhuman-primates-for-human-disease-modeling
#4
REVIEW
Kenya Sato, Erika Sasaki
Nonhuman primate (NHP) experimental models have contributed greatly to human health research by assessing the safety and efficacy of newly developed drugs, due to their physiological and anatomical similarities to humans. To generate NHP disease models, drug-inducible methods, and surgical treatment methods have been employed. Recent developments in genetic and developmental engineering in NHPs offer new options for producing genetically modified disease models. Moreover, in recent years, genome-editing technology has emerged to further promote this trend and the generation of disease model NHPs has entered a new era...
December 4, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29196733/regulation-of-hmgb3-by-antitumor-mir-205-5p-inhibits-cancer-cell-aggressiveness-and-is-involved-in-prostate-cancer-pathogenesis
#5
Yasutaka Yamada, Rika Nishikawa, Mayuko Kato, Atsushi Okato, Takayuki Arai, Satoko Kojima, Kazuto Yamazaki, Yukio Naya, Tomohiko Ichikawa, Naohiko Seki
Our recent determination of a microRNA (miRNA) expression signature in prostate cancer (PCa) revealed that miR-205-5p was significantly reduced in PCa tissues and that it acted as an antitumor miRNA. The aim of this study was to identify oncogenic genes and pathways in PCa cells that were regulated by antitumor miR-205-5p. Genome-wide gene expression analyses and in silico miRNA database searches showed that 37 genes were putative targets of miR-205-5p regulation. Among those genes, elevated expression levels of seven in particular (HMGB3, SPARC, MKI67, CENPF, CDK1, RHOU, and POLR2D) were associated with a shorter disease-free survival in a large number of patients in the The Cancer Genome Atlas (TCGA) database...
December 1, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29192238/evaluation-of-reported-pathogenic-variants-and-their-frequencies-in-a-japanese-population-based-on-a-whole-genome-reference-panel-of-2049-individuals
#6
Yumi Yamaguchi-Kabata, Jun Yasuda, Osamu Tanabe, Yoichi Suzuki, Hiroshi Kawame, Nobuo Fuse, Masao Nagasaki, Yosuke Kawai, Kaname Kojima, Fumiki Katsuoka, Sakae Saito, Inaho Danjoh, Ikuko N Motoike, Riu Yamashita, Seizo Koshiba, Daisuke Saigusa, Gen Tamiya, Shigeo Kure, Nobuo Yaegashi, Yoshio Kawaguchi, Fuji Nagami, Shinichi Kuriyama, Junichi Sugawara, Naoko Minegishi, Atsushi Hozawa, Soichi Ogishima, Hideyasu Kiyomoto, Takako Takai-Igarashi, Kengo Kinoshita, Masayuki Yamamoto
Clarifying allele frequencies of disease-related genetic variants in a population is important in genomic medicine; however, such data is not yet available for the Japanese population. To estimate frequencies of actionable pathogenic variants in the Japanese population, we examined the reported pathological variants in genes recommended by the American College of Medical Genetics and Genomics (ACMG) in our reference panel of genomic variations, 2KJPN, which was created by whole-genome sequencing of 2049 individuals of the resident cohort of the Tohoku Medical Megabank Project...
December 1, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29192240/characterization-of-the-b-cell-receptor-repertoires-in-peanut-allergic-subjects-undergoing-oral-immunotherapy
#7
Kazuma Kiyotani, Tu H Mai, Rui Yamaguchi, Poh Yin Yew, Mike Kulis, Kelly Orgel, Seiya Imoto, Satoru Miyano, A Wesley Burks, Yusuke Nakamura
B-cell receptors (BCRs) play a critical role in adaptive immunity as they generate highly diverse immunoglobulin repertoires to recognize a wide variety of antigens. To better understand immune responses, it is critically important to establish a quantitative and rapid method to analyze BCR repertoire comprehensively. Here, we developed "Bcrip", a novel approach to characterize BCR repertoire by sequencing millions of BCR cDNA using next-generation sequencer. Using this method and quantitative real-time PCR, we analyzed expression levels and repertoires of BCRs in a total of 17 peanut allergic subjects' peripheral blood samples before and after receiving oral immunotherapy (OIT) or placebo...
November 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29192239/a-commentary-on-band-like-calcification-with-simplified-gyration-and-polymicrogyria-report-of-10-new-families-and-identification-of-five-novel-ocln-mutations
#8
EDITORIAL
Rayssa Borges-Medeiros, João Ricardo Mendes de Oliveira
No abstract text is available yet for this article.
November 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29180645/combinations-of-chromosome-transfer-and-genome-editing-for-the-development-of-cell-animal-models-of-human-disease-and-humanized-animal-models
#9
REVIEW
Narumi Uno, Satoshi Abe, Mitsuo Oshimura, Yasuhiro Kazuki
Chromosome transfer technology, including chromosome modification, enables the introduction of Mb-sized or multiple genes to desired cells or animals. This technology has allowed innovative developments to be made for models of human disease and humanized animals, including Down syndrome model mice and humanized transchromosomic (Tc) immunoglobulin mice. Genome editing techniques are developing rapidly, and permit modifications such as gene knockout and knockin to be performed in various cell lines and animals...
November 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29180644/genome-editing-for-the-reproduction-and-remedy-of-human-diseases-in-mice
#10
REVIEW
Satoshi Hara, Shuji Takada
With the recent progress in genome-editing technologies, such as the CRISPR/Cas9 system, genetically modified animals carrying nucleotide substitutions or large chromosomal rearrangements can be produced rapidly and at low cost. Such genome-editing techniques have been applied in the generation of animal models, especially mice, for reproducing human disease mutations, such as single-nucleotide polymorphisms (SNPs) or large chromosomal rearrangements identified by genome-wide screening analyses. While application methods are under development for various complex mutations involving genome editing for mimicking human disease-causing mutations in mice, functional studies of mouse models carrying replicated human mutations are gradually being published...
November 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29167554/phenotypic-expression-of-a-novel-desmin-gene-mutation-hypertrophic-cardiomyopathy-followed-by-systemic-myopathy
#11
Haruhito Harada, Takeharu Hayashi, Hirofumi Nishi, Ken Kusaba, Yoshinori Koga, Yasutoshi Koga, Ikuya Nonaka, Akinori Kimura
Hypertrophic cardiomyopathy is a heterogeneous disease caused by gene mutations. Most of the disease-causing mutations were found in the genes for sarcomeric proteins, but there are several cases carrying mutations in genes for extra-sarcomeric cytoskeletons. Desmin is a member of extra-sarcomeric cytoskeletons and plays an important role in muscle contraction. Mutations in the desmin gene cause various type of general myopathy and/or cardiomyopathy, known as desmin-related myopathies. We identified a novel desmin missense mutation, Thr219Pro, in the homozygous state in a patient, who first manifested with hypertrophic cardiomyopathy and later progressed to general myopathy...
November 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29158600/crispr-cas9-library-screening-for-drug-target-discovery
#12
REVIEW
Morito Kurata, Kouhei Yamamoto, Branden S Moriarity, Masanobu Kitagawa, David A Largaespada
CRISPR/Cas9-based tools have rapidly developed in recent years. These include CRISPR-based gene activation (CRISPRa) or inhibition (CRISPRi), for which there are libraries. CRISPR libraries for loss of function have been widely used to identify new biological mechanisms, such as drug resistance and cell survival signals. CRISPRa is highly useful in screening for gain of functions, and CRISPRi is a more powerful tool than RNA interference (RNAi) libraries in screening for loss of functions. Positive selection using a CRISPR library can detect survival cells with specific conditions, such as drug treatment, and it can easily clarify drug resistance mechanisms...
November 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29158599/application-of-genome-editing-technologies-in-rats-for-human-disease-models
#13
REVIEW
Kazuto Yoshimi, Tomoji Mashimo
Laboratory rats and mice are representative experimental animals for models of human disease. The emergence of genome editing technologies has enabled us to produce a variety of genetically modified animals, including rats, as a means of elucidating the in vivo functions of the gene of interest and characterizing the molecular mechanisms of human disease. Several advanced techniques for knock-in methodologies in rats are currently in development, which permit researchers to introduce precise nucleotide modifications at target sites in the rat's genome...
November 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29215096/exome-sequencing-revealed-a-novel-nonsense-variant-in-alx3-gene-underlying-frontorhiny
#14
Asmat Ullah, Muhammad Umair, Umm E-Kalsoom, Shaheen Shahzad, Sulman Basit, Wasim Ahmad
Frontorhiny is one of the two forms of mid-facial malformations characterized by ocular hypertelorism, wide and short nasal ridge, bifid nasal tip, broad columella, widely separated nares, long and wide philtrum and V-shaped hairline. Sometimes these phenotypes are associated with ptosis and midline dermoid cysts. Frontorhiny inherits in an autosomal recessive pattern. Sequence variants in the Aristaless-like homeobox 3 (ALX3) gene underlying frontorhiny have been reported previously. Here, in the present study, we have investigated four patients in a consanguineous family of Pakistani origin segregating frontorhiny in autosomal recessive manner...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29215095/homozygosity-for-a-nonsense-variant-in-aimp2-is-associated-with-a-progressive-neurodevelopmental-disorder-with-microcephaly-seizures-and-spastic-quadriparesis
#15
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, Kadavigere V Rajagopal, Katta M Girisha, Neerja Gupta, Ashwin Dalal
We ascertained two unrelated consanguineous families with two affected children each having microcephaly, refractory seizures, intellectual disability, and spastic quadriparesis. Magnetic resonance imaging showed atrophy of cerebrum, cerebellum and spinal cord, prominent cisterna magna, symmetric T2 hypo-intensities in the bilateral basal ganglia and thinning of corpus callosum. Whole-exome sequencing of three affected individuals revealed c.105C>A [p.(Tyr35Ter)] variant in AIMP2. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29215094/expression-qtl-analysis-of-glaucoma-endophenotypes-in-the-norfolk-island-isolate-provides-evidence-that-immune-related-genes-are-associated-with-optic-disc-size
#16
Pik Fang Kho, Rodney A Lea, Miles C Benton, David Eccles, Larisa M Haupt, Alex W Hewitt, Justin C Sherwin, David A Mackey, Lyn R Griffiths
Primary open-angle glaucoma (POAG) is influenced by both genetic and environmental factors. Despite significant progress in identifying genetic variants associated with POAG, there remains a substantial amount of unexplained heritability. Study design features that may enhance knowledge of the genetic architecture include focusing on multiple quantitative traits related to ocular disorders (i.e. endophenotypes), targeting genetic variants that directly influence gene expression (i.e. cis-eQTLs) and utilising genetically isolated populations to reduce genetic and environmental noise and thus enhance association signals...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29215093/two-large-deletions-extending-beyond-either-end-of-the-rhd-gene-and-their-red-cell-phenotypes
#17
Kshitij Srivastava, David Alan Stiles, Franz Friedrich Wagner, Willy Albert Flegel
Only two partial deletions longer than 655 nucleotides had been reported for the RHD gene, constrained within the gene and causing DEL phenotypes. Using a combination of quantitative PCR and long-range PCR, we examined three distinct deletions affecting parts of the RHD gene in three blood donors. Their RHD nucleotide sequences and exact boundaries of the breakpoint regions were determined. DEL phenotypes were caused by a novel 18.4 kb deletion and a previously published 5.4 kb deletion of the RHD gene; a D-negative phenotype was caused by a novel 7...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29215092/improvement-in-the-sensitivity-of-newborn-screening-for-fabry-disease-among-females-through-the-use-of-a-high-throughput-and-cost-effective-method-dna-mass-spectrometry
#18
Yung-Hsiu Lu, Po-Hsun Huang, Li-Yun Wang, Ting-Rong Hsu, Hsing-Yuan Li, Pi-Chang Lee, Yu-Ping Hsieh, Sheng-Che Hung, Yu-Chen Wang, Sheng-Kai Chang, Ya-Ting Lee, Ping-Hsun Ho, Hui-Chen Ho, Dau-Ming Niu
Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team's aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel...
November 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29215091/cancer-induction-and-suppression-with-transcriptional-control-and-epigenome-editing-technologies
#19
REVIEW
Shota Nakade, Takashi Yamamoto, Tetsushi Sakuma
Cancer epigenetics is one of the most important research subjects in dissecting cancer mechanisms and therapeutic targets because the emergence and malignant transformation of various cancers are caused by unnatural expression of cancer-related genes attributed to their epigenetic errors. The original concept of cancer epigenetics basically stands on the analysis of the epigenetic status in naturally occurring cancer cells; however, the rapidly emerging technology called epigenome editing would change this situation drastically...
November 14, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29215090/in-vivo-genome-editing-via-the-hiti-method-as-a-tool-for-gene-therapy
#20
REVIEW
Keiichiro Suzuki, Juan Carlos Izpisua Belmonte
Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is primarily because current tools are inefficient. In particular, current technologies are incapable of targeted gene knock-in in non-dividing cells, the major building blocks of adult tissues. This poses a significant barrier for developing therapeutic strategies to treat a broad range of devastating genetic disorders...
November 13, 2017: Journal of Human Genetics
journal
journal
32999
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"