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Journal of Human Genetics

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https://www.readbyqxmd.com/read/28725025/an-atypical-case-of-spg56-cyp2u1-related-spastic-paraplegia-presenting-with-delayed-myelination
#1
Gaku Minase, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Toshinobu Miyamoto, Kazuo Sengoku, Naomichi Matsumoto
Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome P450 2U1 gene (CYP2U1) are associated with spastic paraplegia type 56 (SPG56), manifesting both uncomplicated and complicated HSP. Accompanying clinical features include intellectual disability, dystonia, cerebellar ataxia, subclinical peripheral neuropathy, visual impairment, as well as abnormalities in brain magnetic resonance imaging...
July 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28725024/a-novel-de-novo-mutation-in-csnk2a1-reinforcing-the-link-to-neurodevelopmental-abnormalities-and-dysmorphic-features
#2
Joanne Trinh, Irina Hüning, Nadja Budler, Volker Hingst, Katja Lohmann, Gabriele Gillessen-Kaesbach
No abstract text is available yet for this article.
July 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28703135/genome-wide-association-study-of-neovascular-age-related-macular-degeneration-in-the-thai-population
#3
Paisan Ruamviboonsuk, Mongkol Tadarati, Panisa Singhanetr, Sukanya Wattanapokayakit, Punna Kunhapan, Thanyapat Wanitchanon, Nuanjun Wichukchinda, Taisei Mushiroda, Masato Akiyama, Yukihide Momozawa, Michiaki Kubo, Surakameth Mahasirimongkol
We performed a genome-wide association study on 377 cases of neovascular age-related macular degeneration (AMD) and 1074 controls to determine the association of previously reported genetic variants associated with neovascular AMD in the Thai population. All patients were of Thai ancestry. We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10(-17)), HTRA1 rs11200638 (P=5.47 × 10(-17)) and complement factor H gene (CFH) rs800292 (P=2.53 × 10(-8)) with neovascular AMD, all loci passing the genome-wide significance level (P<5...
July 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28703134/genetic-variants-underlying-vitamin-d-metabolism-and-vdr-tgf%C3%AE-1-smad3-interaction-may-impact-on-hcv-progression-a-study-based-on-dbgap-data-from-the-halt-c-study
#4
Laura A de Azevedo, Ursula Matte, Themis R da Silveira, Mário R Álvares-da-Silva
Vitamin D deficiency is prevalent in liver disease and vitamin D has been shown to decrease hepatic fibrosis through an anti-TGFβ-1/SMAD3 effect mediated by the vitamin D receptor. Thus, we hypothesized that genetic variants involved in vitamin D metabolism and/or VDR/TGFβ-1/SMAD3 interaction could impact on the progression of chronic HCV. We obtained or imputed genotypes for 40 single nucleotide polymorphisms (SNPs) located in genes implicated in vitamin D metabolism from the HALT-C cohort via dbGaP. The HALT-C study followed 692 chronic HCV patients over 4 years, evaluating clinical outcomes including worsening of fibrosis, hepatic decompensation (gastric/esophageal bleeding, CTP>7, ascites, spontaneous bacterial peritonitis and encephalopathy), development of hepatocellular carcinoma, and liver death...
July 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28703133/association-of-autoimmune-hepatitis-with-src-homology-2-adaptor-protein-3-gene-polymorphisms-in-japanese-patients
#5
Takeji Umemura, Satoru Joshita, Hideaki Hamano, Kaname Yoshizawa, Shigeyuki Kawa, Eiji Tanaka, Masao Ota
Autoimmune hepatitis (AIH) is a chronic inflammatory liver disease characterized by an autoimmune reaction to hepatocytes. The Src homology 2 adaptor protein 3 (SH2B3) gene is a member of the SH2B family of adaptor proteins that has been implicated in the integration and regulation of multiple signaling events. SH2B3 is involved in cytokine signaling pathways and serves as a negative mediator of T-cell receptor signaling. Genome-wide association analyses in Caucasians have linked a missense mutation at rs3184504 in SH2B3 with AIH...
July 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28680110/deletions-not-duplications-or-small-mutations-are-the-predominante-new-mutations-in-the-dystrophin-gene
#6
Janusz G Zimowski, Magdalena Pawelec, Joanna K Purzycka, Walentyna Szirkowiec, Jacek Zaremba
Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the carrier frequency between mothers of DMD and BMD patients. However, we found that new mutations in patients with deletions were significantly more frequent than in those with duplications and small mutations: of 564 unrelated patients with deletions, 236 (41...
July 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28680109/deep-intronic-variant-of-fukutin-is-the-most-prevalent-point-mutation-of-fukuyama-congenital-muscular-dystrophy-in-japan
#7
Kazuhiro Kobayashi, Reiko Kato, Eri Kondo-Iida, Mariko Taniguchi-Ikeda, Makiko Osawa, Kayoko Saito, Tatsushi Toda
Fukuyama congenital muscular dystrophy (FCMD), which is caused by mutations in the fukutin gene, is the second most common form of childhood muscular dystrophy in Japan. The founder haplotype is the most prevalent in the chromosomes of Japanese FCMD patients, and corresponds to an SVA retrotransposal insertion in the 3'-untranslated region of fukutin. Although other mutations have been reported, the mutation corresponding to the second most prevalent haplotype in Japanese FCMD patients remained unknown. Recently a deep-intronic point mutation c...
July 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28659612/regulation-of-spock1-by-dual-strands-of-pre-mir-150-inhibit-cancer-cell-migration-and-invasion-in-esophageal-squamous-cell-carcinoma
#8
Yusaku Osako, Naohiko Seki, Keiichi Koshizuka, Atsushi Okato, Tetsuya Idichi, Takayuki Arai, Itaru Omoto, Ken Sasaki, Yasuto Uchikado, Yoshiaki Kita, Hiroshi Kurahara, Kosei Maemura, Shoji Natsugoe
Analysis of our microRNA (miRNA) expression signatures of human cancers based on RNA sequencing have shown that both strands of pre-miR-150, miR-150-5p (the guide strand) and miR-150-3p (the passenger strand), are significantly reduced in cancer tissues. We have investigated the functional significance of both strands of pre-miR-150 in cancer cells. The aim of this study was to investigate the antitumor function of these miRNAs and how these miRNAs regulated oncogenic targets in esophageal squamous cell carcinoma (ESCC)...
June 29, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28659611/a-common-deletion-in-the-haptoglobin-gene-associated-with-blood-cholesterol-levels-among-chinese-women
#9
Neil S Zheng, Lisa A Bastarache, Julie A Bastarache, Yingchang Lu, Lorraine B Ware, Xiao-Ou Shu, Joshua C Denny, Jirong Long
Haptoglobin (HP) protein plays a critical role in binding and removing free hemoglobin from blood. A deletion in the HP gene affects the protein structure and function. A recent study developed a novel method to impute this variant and discovered significant association of this variant with low-density lipoprotein (LDL) and total cholesterol levels among European descendants. In the present study, we investigated this variant among 3608 Chinese women. Consistent with findings from Europeans, we found significant associations between the deletion with lower cholesterol levels; women homozygous for the deletion allele (HP1-HP1), had a lower level of total cholesterol (-4...
June 29, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28638143/siblings-with-optic-neuropathy-and-rtn4ip1-mutation
#10
Nobuhiko Okamoto, Fuyuki Miya, Yoshikazu Hatsukawa, Yasuhiro Suzuki, Kazumi Kawato, Yuto Yamamoto, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki
Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1. Autosomal-recessive IONs are rare. OPA10 is an autosomal-recessive ION due to mutations in RTN4IP1. Patients with RTN4IP1 mutations show extraocular manifestations. We report brothers with optic neuropathy who had novel mutations in the RTN4IP1 gene. This is the first report of Japanese patients with OPA10...
June 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28638142/inter-generational-instability-of-inserted-repeats-during-transmission-in-spinocerebellar-ataxia-type-31
#11
Kunihiro Yoshida, Akira Matsushima, Katsuya Nakamura
The causative mutation for spinocerebellar ataxia type 31 (SCA31) is an intronic insertion containing pathogenic pentanucleotide repeats, (TGGAA)n. We examined to what degree the inserted repeats were unstable during transmission. In 14 parent-child pairs, the average change of onset age was -6.4±7.3 years (mean±s.d.) in the child generation when compared with the parent generation. Of the 11 pairs analyzed, six showed expansion of inserted repeat length during transmission, and five showed contraction. On average, the inserted repeats expanded by 12...
June 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28638141/al-mena-a-comprehensive-resource-of-human-genetic-variants-integrating-genomes-and-exomes-from-arab-middle-eastern-and-north-african-populations
#12
Remya Koshy, Anop Ranawat, Vinod Scaria
Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations...
June 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28615676/a-reply-to-a-commentary-on-homozygous-p-glu87lys-variant-in-isca1-is-associated-with-a-multiple-mitochondrial-dysfunctions-syndrome
#13
Anju Shukla, Malavika Hebbar, Katta M Girisha
No abstract text is available yet for this article.
June 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28615675/a-commentary-on-homozygous-p-glu87lys-variant-in-isca1-is-associated-with-a-multiple-mitochondrial-dysfunctions-syndrome
#14
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
June 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28615674/meta-analysis-of-genome-wide-snp-and-pathway-based-associations-for-facets-of-neuroticism
#15
Song E Kim, Han-Na Kim, Yeo-Jun Yun, Seong Gu Heo, Juhee Cho, Min-Jung Kwon, Yoosoo Chang, Seungho Ryu, Hocheol Shin, Chol Shin, Nam H Cho, Yeon Ah Sung, Hyung-Lae Kim
Neuroticism is a heritable personality trait that is comprised of distinct sub-factors, or facets. Sub-factors of neuroticism are linked to different emotional states or psychiatric symptoms and studying the genetic variants associated with these facets may help reveal the biological mechanisms underlying psychiatric disorders. In the present study, a meta-analysis of genome-wide association studies for six facets of neuroticism was performed in 5584 participants from three cohorts. Additionally, a Gene Set Enrichment Analysis was conducted to find biological pathways associated with each facet...
June 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28592837/maternally-derived-15q11-2-q13-1-duplication-and-h19-dmr-hypomethylation-in-a-patient-with-silver-russell-syndrome
#16
Sumito Dateki, Masayo Kagami, Keiko Matsubara, Kei Izumi, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Maki Fukami, Hiroyuki Moriuchi
Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR) on chromosome 11p15.5 is the most common cause of the SRS phenotype. We report the first SRS patient with hypomethylation of the H19-DMR and maternally derived 15q11...
June 8, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28566770/phylogeny-of-y-chromosome-haplogroup-c3b-f1756-an-important-paternal-lineage-in-altaic-speaking-populations
#17
Lan-Hai Wei, Yun-Zhi Huang, Shi Yan, Shao-Qing Wen, Ling-Xiang Wang, Pan-Xin Du, Da-Li Yao, Shi-Lin Li, Ya-Jun Yang, Li Jin, Hui Li
In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93-, P39-, M48-, M407-, and P53.1-, and its origin and phylogeny remain ambiguous. Here, we analyzed Y-chromosome sequences of 10 male that are related this paternal lineage and redefined it as C3b1a1a1a-F1756 (C3b-F1756). We generated a highly revised phylogenetic tree of haplogroup C3b-F1756, including 21 sub-clades and 360 non-private Y-chromosome polymorphisms...
June 1, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28566769/a-commentary-on-ankrd11-variants-cause-variable-clinical-features-associated-with-kbg-syndrome-and-coffin-siris-like-syndrome
#18
Tadashi Kaname, Kumiko Yanagi
No abstract text is available yet for this article.
June 1, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28566768/moving-towards-successful-exon-skipping-therapy-for-duchenne-muscular-dystrophy
#19
REVIEW
Akinori Nakamura
Duchenne muscular dystrophy (DMD) is an X chromosome-linked lethal muscular disorder with progressing muscle wasting and weakness caused by mutations in the gene encoding a subsarcolemmal protein dystrophin. For a long time, there was no effective cure; however, advances in molecular biology have allowed the development of radical treatment approaches. Among them, exon-skipping therapy using antisense oligonucleotides is very promising, because it corrects the reading frame of the dystrophin-encoding gene and restores protein expression, resulting in the conversion of DMD to a clinically milder form, Becker muscular dystrophy (BMD)...
June 1, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28539666/replication-and-fine-mapping-of-genetic-predictors-of-lipid-traits-in-african-americans
#20
QiPing Feng, Wei-Qi Wei, Rebecca T Levinson, Jonathan D Mosley, C Michael Stein
Circulating lipid concentrations are among the strongest modifiable risk factors for coronary artery disease (CAD). Most genetic studies have focused on Caucasian populations with little information available for populations of African ancestry. Using a cohort of ~2800 African-Americans (AAs) from a biobank at Vanderbilt University (BioVU), we sought to trans-ethnically replicate genetic variants reported by the Global Lipids Genetics Consortium to be associated with lipid traits in Caucasians, followed by fine-mapping those loci using all available variants on the MetaboChip...
May 25, 2017: Journal of Human Genetics
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