journal
https://read.qxmd.com/read/38454133/weighted-burden-analysis-of-rare-coding-variants-in-470-000-exome-sequenced-uk-biobank-participants-characterises-effects-on-hyperlipidaemia-risk
#21
JOURNAL ARTICLE
David Curtis
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and hyperlipidaemia had implicated four genes, LDLR, PCSK9, APOC3 and IFITM5, at exome-wide significance. In addition, a further 43 protein-coding genes were significant with an uncorrected p value of <0.001. Exome sequence data has become available for a further 270,000 participants and weighted burden analysis to test for association with hyperlipidaemia was carried out in this sample for the 47 genes highlighted by the previous study...
March 7, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38448605/combined-exome-and-whole-transcriptome-sequencing-identifies-a-de-novo-intronic-srcap-variant-causing-dehmba-syndrome-with-severe-sleep-disorder
#22
JOURNAL ARTICLE
Silvia Morlino, Lorenzo Vaccaro, Maria Pia Leone, Grazia Nardella, Luigi Bisceglia, Rocco Pio Ortore, Giannandrea Verzicco, Lazzaro Cassano, Marco Castori, Davide Cacchiarelli, Lucia Micale
Rare heterozygous variants in exons 33-34 of the SRCAP gene are associated with Floating-Harbor syndrome and have a dominant-negative mechanism of action. At variance, heterozygous null alleles falling in other parts of the same gene cause developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (DEHMBA) syndrome. We report an 18-year-old man with DEHMBA syndrome and obstructive sleep apnea, who underwent exome sequencing (ES) and whole transcriptome sequencing (WTS) on peripheral blood...
March 7, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38443624/correction-genetic-association-and-functional-validation-of-zfp36l2-in-non-syndromic-orofacial-cleft-subtypes
#23
Jialin Sun, Mujia Li, Huaqin Sun, Ziyuan Lin, Bing Shi, Zhonglin Jia
No abstract text is available yet for this article.
March 5, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38429412/potential-drug-targets-for-gastroesophageal-reflux-disease-and-barrett-s-esophagus-identified-through-mendelian-randomization-analysis
#24
JOURNAL ARTICLE
Yun-Lu Lin, Tao Yao, Ying-Wei Wang, Zhi-Xiang Zhou, Ze-Chao Hong, Yu Shen, Yu Yan, Yue-Chun Li, Jia-Feng Lin
Gastroesophageal reflux disease (GERD) is a prevalent chronic ailment, and present therapeutic approaches are not always effective. This study aimed to find new drug targets for GERD and Barrett's esophagus (BE). We obtained genetic instruments for GERD, BE, and 2004 plasma proteins from recently published genome-wide association studies (GWAS), and Mendelian randomization (MR) was employed to explore potential drug targets. We further winnowed down MR-prioritized proteins through replication, reverse causality testing, colocalization analysis, phenotype scanning, and Phenome-wide MR...
March 1, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38424184/advances-in-ai-and-machine-learning-for-predictive-medicine
#25
REVIEW
Alok Sharma, Artem Lysenko, Shangru Jia, Keith A Boroevich, Tatsuhiko Tsunoda
The field of omics, driven by advances in high-throughput sequencing, faces a data explosion. This abundance of data offers unprecedented opportunities for predictive modeling in precision medicine, but also presents formidable challenges in data analysis and interpretation. Traditional machine learning (ML) techniques have been partly successful in generating predictive models for omics analysis but exhibit limitations in handling potential relationships within the data for more accurate prediction. This review explores a revolutionary shift in predictive modeling through the application of deep learning (DL), specifically convolutional neural networks (CNNs)...
February 29, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38424183/dyssegmental-dysplasia-rolland-desbuquois-type-is-caused-by-pathogenic-variants-in-hspg2-a-founder-haplotype-shared-in-five-patients
#26
JOURNAL ARTICLE
Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno
Dyssegmental dysplasia (DD) is a severe skeletal dysplasia comprised of two subtypes: lethal Silverman-Handmaker type (DDSH) and nonlethal Rolland-Desbuquois type (DDRD). DDSH is caused by biallelic pathogenic variants in HSPG2 encoding perlecan, whereas the genetic cause of DDRD remains undetermined. Schwartz-Jampel syndrome (SJS) is also caused by biallelic pathogenic variants in HSPG2 and is an allelic disorder of DDSH. In SJS and DDSH, 44 and 8 pathogenic variants have been reported in HSPG2, respectively...
February 29, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38409498/identifying-the-genetic-associations-among-the-psoriasis-patients-in-eastern-india
#27
JOURNAL ARTICLE
Shantanab Das, Aditi Chandra, Anamika Das, Swapan Senapati, Gobinda Chatterjee, Raghunath Chatterjee
Psoriasis is a multifactorial genetic disorder manifested by hyperproliferation and abnormal differentiation of epidermal keratinocytes, along with the infiltration of inflammatory cells into the skin. Although ~80 genetic susceptibility variants were reported in psoriasis, many loci showed population-specific associations, warranting the need for more population-specific association studies in psoriasis. We determined the association of forty single nucleotide polymorphisms (SNPs) among 2136 psoriasis patients and normal individuals from eastern India...
February 27, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38409497/the-frequency-and-pathogenicity-of-brca1-and-brca2-variants-in-the-general-japanese-population
#28
JOURNAL ARTICLE
Masashi Idogawa, Tasuku Mariya, Yumi Tanaka, Tsuyoshi Saito, Hiroshi Nakase, Takashi Tokino, Akihiro Sakurai
Hereditary breast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of BRCA1 or BRCA2 is the most common and well-documented hereditary tumor. Although founder variants have been identified in population-based surveys in various countries, the types of variants are not uniform across races and regions. Recently, the Tohoku Medical Megabank Organization (ToMMo) released whole-genome sequence data including approximately 54,000 individuals from the general population of the Tohoku area in Japan...
February 27, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38409496/the-c-1617del-variant-of-tmem260-is-identified-as-the-most-frequent-single-gene-determinant-for-japanese-patients-with-a-specific-type-of-congenital-heart-disease
#29
JOURNAL ARTICLE
Tadashi Inoue, Ryuta Takase, Keiko Uchida, Kazuki Kodo, Kenji Suda, Yoriko Watanabe, Koh-Ichiro Yoshiura, Masaya Kunimatsu, Reina Ishizaki, Kenko Azuma, Kei Inai, Jun Muneuchi, Yoshiyuki Furutani, Hiroyuki Akagawa, Hiroyuki Yamagishi
Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have facilitated the exploration of causative genes for CHD. We reported that the pathogenic variant c.1617del of TMEM260, which encodes a transmembrane protein, is highly associated with CHD, specifically persistent truncus arteriosus (PTA), the most severe cardiac outflow tract (OFT) defect. Using whole-exome sequencing, the c.1617del variant was identified in two siblings with PTA in a Japanese family and in three of the 26 DNAs obtained from Japanese individuals with PTA...
February 26, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38374166/heterozygous-capza2-mutations-cause-global-developmental-delay-hypotonia-with-epilepsy-a-case-report-and-the-literature-review
#30
JOURNAL ARTICLE
Xiao-Man Zhang, Kai-Li Xu, Jing-Hui Kong, Geng Dong, Shi-Jie Dong, Zhi-Xiao Yang, Shu-Jing Xu, Li Wang, Shu-Ying Luo, Yao-Dong Zhang, Chong-Chen Zhou, Wei-Yue Gu, Shi-Yue Mei
CAPZA2 encodes the α2 subunit of CAPZA, which is vital for actin polymerization and depolymerization in humans. However, understanding of diseases associated with CAPZA2 remains limited. To date, only three cases have been documented with neurodevelopmental abnormalities such as delayed motor development, speech delay, intellectual disability, hypotonia, and a history of seizures. In this study, we document a patient who exhibited seizures, mild intellectual disability, and impaired motor development yet did not demonstrate speech delay or hypotonia...
February 19, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38374165/leigh-syndrome-with-developmental-regression-and-ataxia-due-to-a-novel-splicing-variant-in-the-pmpcb-gene
#31
JOURNAL ARTICLE
Emma Matthews, Ella F Whittle, Faraan Khan, Meriel McEntagart, Christopher J Carroll
Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and epilepsy. Three of the five died in childhood and none was older than age six when described. We report the first splice site variant in the PMPCB gene in a 39-year old individual who experienced developmental regression and ataxia following otitis media in childhood...
February 19, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38355957/expanding-the-genetic-and-phenotypic-spectrum-of-congenital-myasthenic-syndrome-new-homozygous-vamp1-splicing-variants-in-2-novel-individuals
#32
JOURNAL ARTICLE
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES) uncovered two new homozygous VAMP1 (Vesicle Associated Membrane Protein 1) splicing variants, NM_014231.5:c.129+5 G > A in the boy patient (P1) and c.341-24_341-16delinsAGAAAA in the girl patient (P2). This gene encodes the vesicle-associated membrane protein 1 (VAMP1) that is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane...
February 14, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38351238/crispr-cas9-mediated-knock-in-cells-of-the-late-onset-alzheimer-s-disease-risk-variant-sharpin-g186r-reveal-reduced-nf-%C3%AE%C2%BAb-pathway-and-accelerated-a%C3%AE-secretion
#33
JOURNAL ARTICLE
Yuya Asanomi, Tetsuaki Kimura, Nobuyoshi Shimoda, Daichi Shigemizu, Shumpei Niida, Kouichi Ozaki
No abstract text is available yet for this article.
February 13, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38351237/genetic-etiology-of-truncus-arteriosus-excluding-22q11-2-deletion-syndrome-and-identification-of-c-1617del-a-prevalent-variant-in-tmem260-in-the-japanese-population
#34
JOURNAL ARTICLE
Hisao Yaoita, Eiichiro Kawai, Jun Takayama, Shinya Iwasawa, Naoya Saijo, Masayuki Abiko, Kouta Suzuki, Masato Kimura, Akira Ozawa, Gen Tamiya, Shigeo Kure, Atsuo Kikuchi
Truncus Arteriosus (TA) is a congenital heart disease characterized by a single common blood vessel emerging from the right and left ventricles instead of the main pulmonary artery and aorta. TA accounts for 4% of all critical congenital heart diseases. The most common cause of TA is 22q11.2 deletion syndrome, accounting for 12-35% of all TA cases. However, no major causes of TA other than 22q11.2 deletion have been reported. We performed whole-genome sequencing of 11 Japanese patients having TA without 22q11...
February 13, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38332109/a-splice-acceptor-variant-in-rgs6-associated-with-intellectual-disability-microcephaly-and-cataracts-disproportionately-promotes-expression-of-a-subset-of-rgs6-isoforms
#35
JOURNAL ARTICLE
K E Ahlers-Dannen, J Yang, M M Spicer, D Fu, A DeVore, R A Fisher
Intellectual disability (ID) is associated with an increased risk of developing psychiatric disorders, suggesting a common underlying genetic factor. Importantly, altered signaling and/or expression of regulator of G protein signaling 6 (RGS6) is associated with ID and numerous psychiatric disorders. RGS6 is highly conserved and undergoes complex alternative mRNA splicing producing ~36 protein isoforms with high sequence similarity historically necessitating a global approach in functional studies. However, our recent analysis in mice revealed RGS6 is most highly expressed in CNS with RGS6L(+GGL) isoforms predominating...
February 9, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38321215/genetic-association-and-functional-validation-of-zfp36l2-in-non-syndromic-orofacial-cleft-subtypes
#36
JOURNAL ARTICLE
Jialin Sun, Mujia Li, Huaqin Sun, Ziyuan Lin, Bing Shi, Zhonglin Jia
BACKGROUND: Non-syndromic orofacial cleft (NSOC) is one of the most common craniofacial malformations with complex etiology. This study aimed to explore the role of specific SNPs in ZFP36L2 and its functional relevance in zebrafish models. METHODS: We analyzed genetic data of the Chinese Han population from two previous GWAS, comprising of 2512 cases and 2255 controls. Based on the Hardy-Weinberg Equilibrium (HWE) and minor allele frequency (MAF), SNPs in the ZFP36L2 were selected for association analysis...
February 6, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38316882/cardiac-manifestations-of-human-acta2-variants-recapitulated-in-a-zebrafish-model
#37
JOURNAL ARTICLE
Wulan Apridita Sebastian, Masanori Inoue, Nobuyuki Shimizu, Ryosuke Sato, Saori Oguri, Tomoyo Itonaga, Shintaro Kishimoto, Hiroshi Shiraishi, Toshikatsu Hanada, Kenji Ihara
The ACTA2 gene encodes actin α2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines, pupils, bladder, or heart. We identified a heterozygous missense variant of Gly148Arg (G148R) in a patient with a thoracic aortic aneurysm, dissection, and left ventricular non-compaction. We used zebrafish as an in vivo model to investigate whether or not the variants might cause functional or histopathological abnormalities in the heart...
February 5, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38228875/a-comparative-study-on-riboflavin-responsive-multiple-acyl-coa-dehydrogenation-deficiency-due-to-variants-in-flad1-and-etfdh-gene
#38
JOURNAL ARTICLE
Bing Wen, Runqi Tang, Shuyao Tang, Yuan Sun, Jingwen Xu, Dandan Zhao, Tan Wang, Chuanzhu Yan
Lipid storage myopathy (LSM) is a heterogeneous group of lipid metabolism disorders predominantly affecting skeletal muscle by triglyceride accumulation in muscle fibers. Riboflavin therapy has been shown to ameliorate symptoms in some LSM patients who are essentially concerned with multiple acyl-CoA dehydrogenation deficiency (MADD). It is proved that riboflavin responsive LSM caused by MADD is mainly due to ETFDH gene variant (ETFDH-RRMADD). We described here a case with riboflavin responsive LSM and MADD resulting from FLAD1 gene variants (c...
January 17, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38228874/novel-compound-heterozygous-abca2-variants-cause-idpogsa-a-variable-phenotypic-syndrome-with-intellectual-disability
#39
JOURNAL ARTICLE
Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
The gene for ATP binding cassette subfamily A member 2 (ABCA2) is located at chromosome 9q34.3. Biallelic ABCA2 variants lead to intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA). In this study, we identified novel compound heterozygous ABCA2 variants (NM_001606.5:c.[5300-17C>A];[6379C>T]) by whole exome sequencing in a 28-year-old Korean female patient with intellectual disability. These variants included intronic and nonsense variants of paternal and maternal origin, respectively, and are absent from gnomAD...
January 17, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38225263/genotype-imputation-methods-for-whole-and-complex-genomic-regions-utilizing-deep-learning-technology
#40
REVIEW
Tatsuhiko Naito, Yukinori Okada
The imputation of unmeasured genotypes is essential in human genetic research, particularly in enhancing the power of genome-wide association studies and conducting subsequent fine-mapping. Recently, several deep learning-based genotype imputation methods for genome-wide variants with the capability of learning complex linkage disequilibrium patterns have been developed. Additionally, deep learning-based imputation has been applied to a distinct genomic region known as the major histocompatibility complex, referred to as HLA imputation...
January 15, 2024: Journal of Human Genetics
journal
journal
32999
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

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"

We want to hear from doctors like you!

Take a second to answer a survey question.