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The Diverse Genetic Landscape of Neurodevelopmental Disorders

Genomics and Human genetics 1000年第1期15卷 195-213页

作者： Wen F. Hu Maria H. Chahrour Christopher A. Walsh 3Harvard-MIT MD-PhD MSTP Program 2Program in Neuroscience 1Division of Genetics and Genomics Department of Medicine Manton Center for Orphan Disease Research and Howard Hughes Medical Institute Boston Children's Hospital Boston Massachusetts 02115 email: wenfanhu@hms.harvard.edu maria.chahrour@childrens.harvard.edu christopher.walsh@childrens.harvard.edu 6Autism Consortium Boston Massachusetts 02115 4Department of Pediatrics 5Department of Neurology Harvard Medical School Boston Massachusetts 02115

Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.

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Interferon Regulatory Factor 6 Promotes Differentiation of the Periderm by Activating Expression of Grainyhead-Like 3 (vol 133, pg 68, 2013)

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JOURNAL OF INVESTIGATIVE DERMATOLOGY 2013年第3期133卷 859-859页

作者： de la Garza, Gabriel Schleiffarth, Jack Robert Dunnwald, Martine Mankad, Anuj Weirather, Jason L. Bonde, Gregory Butcher, Stephen Mansour, Tamer A. Kousa, Youssef A. Fukazawa, Cindy F. Houston, Douglas W. Manak, J. Robert Schutte, Brian C. Wagner, Daniel S. Cornell, Robert A. Department of Otolaryngology-Head and Neck Surgery University of Iowa Iowa City Iowa USA Department of Pediatrics University of Iowa Iowa City Iowa USA Department of Anatomy and Cell Biology University of Iowa Iowa City Iowa USA Interdisciplinary Program in Genetics University of Iowa Iowa City Iowa USA Department of Biology University of Iowa Iowa City Iowa USA Genetics PhD Program Michigan State University East Lansing Michigan USA Department of Biochemistry and Molecular Biology Michigan State University East Lansing Michigan USA Department of Biochemistry and Cell Biology Rice University Houston Texas USA Department of Biology University of Iowa Iowa City Iowa USA Department of Biology University of Iowa Iowa City Iowa USA Department of Microbiology and Molecular Genetics Pediatrics and Human Development Michigan State University East Lansing Michigan USA Department of Anatomy and Cell Biology University of Iowa Iowa City Iowa USA

A correction to the article "Interferon Regulatory Factor 6 Promotes Differentiation of the Periderm by Activating Expression of Grainyhead-Like 3," that was published online on August 30, 2012, is presented.

关键词： INTERFERONS CELL differentiation PERIDERMIUM GENE expression TRANSCRIPTION factors EPITHELIUM ZEBRA danio embryos

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P662: Estimating UK Biobank population-specific PGx allele and phenotype frequencies using PharmCAT

Genetics in Medicine Open

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genetics in Medicine Open 2023年第1期1卷 100727-100727页

作者： Katrin Sangkuhl Ryan Whaley Mark Woon Karl Keat Li Gong Michelle Whirl-Carrillo Marylyn Ritchie Teri Klein Department of Biomedical Data Science Stanford University Stanford CA Genomics and Computational Biology PhD Program University of Pennsylvania Philadelphia PA Department of Genetics University of Pennsylvania Philadelphia PA

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Menarche - a journey into womanhood: age at menarche and health-related outcomes in East Asians

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Human Reproduction 2024年第6期39卷 1336-1350页

作者： Chiou, Jian-Shiun Lin, Ying-Ju Chang, Cherry Yin-Yi Liang, Wen-Miin Liu, Ting-Yuan Yang, Jai-Sing Chou, Chen-Hsing Lu, Hsing-Fang Chiu, Mu-Lin Lin, Ting-Hsu su Liao, Chiu-Chu Huang, Shao-Mei Chou, I-Ching Li, Te-Mao Huang, Peng-Yan Chien, Tzu-Shun Chen, Hou-Ren Tsai, Fuu-Jen PhD Program for Health Science and Industry College of Health Care China Medical University Taichung Taiwan Department of Health Services Administration China Medical University Taichung Taiwan Genetic Center Department of Medical Research China Medical University Hospital Taichung Taiwan School of Chinese Medicine College of Chinese Medicine China Medical University Taichung Taiwan Division of Minimal Invasive Endoscopy Surgery Department of Obstetrics and Gynecology China Medical University Hospital Taichung Taiwan School of Medicine College of Medicine China Medical University Taichung Taiwan Million-Person Precision Medicine Initiative Department of Medical Research China Medical University Hospital Taichung Taiwan Department of Medical Research China Medical University Hospital China Medical University Taichung Taiwan Laboratory for Statistical and Translational Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Department of Pediatrics China Medical University Children's Hospital Taichung Taiwan Graduate Institute of Integrated Medicine China Medical University Taichung Taiwan Division of Medical Genetics China Medical University Children's Hospital Taichung Taiwan Department of Medical Laboratory Science and Biotechnology Asia University Taichung Taiwan

STUDY QUESTION: Are there associations of age at menarche (AAM) with health-related outcomes in East Asians? SUMMARY ANSWER: AAM is associated with osteoporosis, Type 2 diabetes (T2D), glaucoma, and uterine fibroids, as demonstrated through observational studies, polygenic risk scores, genetic correlations, and Mendelian randomization (MR), with additional findings indicating a causal effect of BMI and T2D on earlier AAM. WHAT IS KNOWN ALREADY: Puberty timing is linked to adult disease risk, but research predominantly focuses on European populations, with limited studies in other groups. STUDY DESIGN, SIZE, DURATION: We performed an AAM genome-wide association study (GWAS) with 57 890 Han Taiwanese females and examined the association between AAM and 154 disease outcomes using the Taiwanese database. Additionally, we examined genetic correlations between AAM and 113 diseases and 67 phenotypes using Japanese GWAS summary statistics. PARTICIPANTS/MATERIALS, SETTING, METHODS: We performed AAM GWAS and gene-based GWAS studies to obtain summary statistics and identify potential AAM-related genes. We applied phenotype, polygenic risk scores, and genetic correlation analyses of AAM to explore health-related outcomes, using multivariate regression and linkage disequilibrium score regression analyses. We also explored potential bidirectional causal relationships between AAM and related outcomes through univariable and multivariable MR analyses. MAIN RESULTS AND THE ROLE OF CHANCE: Fifteen lead single-nucleotide polymorphisms and 24 distinct genes were associated with AAM in Taiwan. AAM was genetically associated with later menarche and menopause, greater height, increased osteoporosis risk, but lower BMI, and reduced risks of T2D, glaucoma, and uterine fibroids in East Asians. Bidirectional MR analyses indicated that higher BMI/T2D causally leads to earlier AAM. LIMITATIONS, REASONS FOR CAUTION: Our findings were specific to Han Taiwanese individuals, with genetic correlatio

关键词： age at menarche genetic correlation genome-wide association study Mendelian randomization polygenic risk score

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Sleep and Arousal Scoring for In-Home EEG Signals: A Multitask Learning Approach

Sleep and Arousal Scoring for In-Home EEG Signals: A Multita...

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IEEE International Conference on Healthcare Informatics (ICHI)

作者： Juan Carlos Neira Almanza Leo Ota Kazumasa Horie Fusae Kawana Toshio Kokubo Masashi Yanagisawa Hiroyuki Kitagawa PhD program in Humanics University of Tsukuba Tsukuba Ibaraki Japan Center for Computational Sciences (CCS) University of Tsukuba Tsukuba Ibaraki Japan Graduate School of Medicine Juntendo University Bunkyo Tokyo Japan Yumino Heart Clinic Toshima Tokyo Japan International Institute for Integrative Sleep Medicine (WPI-IlIS) University of Tsukuba Tsukuba Ibaraki Japan S 'UIMIN inc. Shibuya Tokyo Japan Department of Molecular Genetics University of Texas Southwestern Medical Center Dallas Texas USA

ISBN: (数字)9798350383737

ISBN: (纸本)9798350383744

Manual sleep and arousal scoring is a labor-intensive task that demands significant time and effort. To speed up this process, several automatic scoring models based on deep learning have been proposed. These models primarily focus on scoring PSG (Polysomnogram) signals by separately classifying sleep stages and arousal events. This study introduces a novel methodology for concurrent sleep stage classification and arousal scoring, employing multitask learning for the analysis of in-home EEG (Electroencephalogram) signals. Our approach led to improvements in overall precision and sensitivity of arousal scoring, with values increasing by 0.3% to 4%. Notably, this approach did not yield improvements in sleep scoring. We validated our methodology on two private datasets collected from in-home loT (internet of Things) EEG devices and achieved consistent outcomes. Collectively, our research underscores the benefits of multitask learning for arousal scoring in in-home EEG signals.

关键词： Sensitivity Sleep Quality control Medical services Manuals Brain modeling Electroencephalography

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Danon Disease in a 14-Year-Old: An Exclusively Cardiac Phenotype

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JACC: Case Reports 2024年第19期29卷 102603-102603页

作者： Guerra, Enrique C. Beutelspacher-Fernandez, Kerstin Silva-Estrada, Jorge A. Santa-Ana-Bayona, Maria Jose Martinez-Dominguez, Pavel Agredano-Chavez, Cristina P. Pardiño-Vega, Miguel Angel Yanez-Felix, Ana Lucia Yokoyama-Rebollar, Emiy Espinola-Zavaleta, Nilda Department of Nuclear Cardiology National Institute of Cardiology Ignacio Chavez Mexico City Mexico MD-PhD (PECEM) Program School of Medicine National Autonomous University of Mexico Mexico City Mexico Department of Human Genetics National Institute of Pediatrics Coyoacan Mexico City Mexico Department of Pediatric Cardiology National Institute of Pediatrics Coyoacan Mexico City Mexico Department of Echocardiography ABC Medical Center IAP Mexico City Mexico

This paper presents the case of a 14-year-old boy with Danon disease exhibiting exclusive cardiac involvement, initially suspected as hypertrophic cardiomyopathy. Significant deterioration raised suspicion of an alternative etiology. A clinical exome revealed a previously unreported likely pathogenic variant, LAMP2:c.645_651del (***∗25), in hemizygous state, confirming the diagnosis of Danon disease. © 2024 The Authors

关键词： cardiomyopathy Danon disease genetic variant LAMP2

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Correction to: Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia

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Journal of neurology 2021年第5期268卷 1977-1979页

作者： Chiara Benzoni Marco Moscatelli Silvia Fenu Anna Venerando Ettore Salsano Unit of Rare Neurodegenerative and Neurometabolic Diseases Fondazione IRCCS Istituto Neurologico Carlo Besta Via Celoria 11 Milan 20133 Italy. chiara.benzoni1@unimi.it. Unit of Neuroradiology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy. Unit of Rare Neurodegenerative and Neurometabolic Diseases Fondazione IRCCS Istituto Neurologico Carlo Besta Via Celoria 11 Milan 20133 Italy. Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy. Neuroscience PhD Program University of Milano-Bicocca Monza Italy.

The original version of this article unfortunately contained a mistake.

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Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy

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International Journal of Dermatology and Venereology 2021年第2期4卷 70-75页

作者： Bahar Dasgeb Leila Youssefian Amir Hossein Saeidian Jun Kang Wenyin Shi Elizabeth Shoenberg Adam Ertel Paolo Fortina Hassan Vahidnezhad Jouni Uitto Department of Surgical Oncology Rutgers Cancer Institute of New JerseyNew BrunswickNJ 08903USA Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical Collegeand Jefferson Institute of Molecular MedicineThomas Jefferson UniversityPhiladelphiaPA 19107USA Genetics Genomics and Cancer Biology PhD ProgramThomas Jefferson UniversityPhiladelphiaPA 19107USA Department of Radiation Oncology Thomas Jefferson UniversityPhiladelphiaPAUSA Department of Internal Medicine Mercy Medical CenterBaltimoreMD 21202USA Department of Cancer Biology Sidney Kimmel Cancer CenterThomas Jefferson UniversityPhiladelphiaPA 19107USA

Objective:Well-defined germ-line mutations in thePTCH1 gene are associated with syndromic multiple basal cell carcinomas(BCCs).Here,we used whole exome sequencing(WES)to identify the role of patched-1 in patients with multiple,unusually large ***:A 72-year old patient presenting with numerous BCCs progressing to large ulcerating lesions was *** was used to identify the pathogenic gene ***:Genetic work-up by WES identified a homozygousPTCH1 nonsense mutation in the tumor tissue but not present in her blood cells or in non-lesional *** addition,heterozygous missense mutations were identified in three cancer-associated genes(EPHB2,RET,andGALNT12)in blood cells as well as in lesional and non-lesional *** also tested systemic immune therapy as a potentially beneficial approach to treat patients with numerous large BCCs on scatted areas of involvement.A rapid and sustained response to nivolumab was noted,suggesting that it is an efficacious drug for long-term therapeutic ***:PTCH1,EPHB2,RET,andGALNT12 may potentially contribute to the synergistic oncogene driven malignant transformation manifesting as multiple,unusually large BCCs.

关键词： immune therapy malignant transformation gene-susceptibility non-syndromic basal cell carcinoma PTCH1 skin neoplasms

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Non-canonical odor coding in the mosquito

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四川生理科学杂志 2022年第8期44卷 1361-1361页

作者： Margaret Herre Laboratory of Neurogenetics and Behavior The Rockefeller University New York NY 10065 USA Kavli Neural Systems Institute New York NY 10065 USA Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-PhD Program New York NY 10065 USA Huffington Center on Aging and Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA Disease Vector Group Unit of Chemical Ecology Department of Plant Protection Biology Swedish University of Agricultural Sciences Alnarp 234 22 Sweden Howard Hughes Medical Institute New York NY 10065 USA Department of Biology Boston University Boston MA 02215 USA

Aedes aegypti mosquitoes are a persistent human foe,transmitting arboviruses including dengue when they feed on human *** are intensely attracted to body odor and carbon dioxide,which they detect using ionotropic chemosensory receptors encoded by three large multi-gene *** mutations that disrupt the olfactory system have modest effects on human attraction,suggesting redundancy in odor *** canonical view is that olfactory sensory neurons each express a single chemosensory receptor that defines its ligand *** discovered that *** uses a different organizational principle,with many neurons co-expressing multiple chemosensory receptor *** vivo electrophysiology demonstrates that the broad ligand-sensitivity of mosquito olfactory neurons depends on this non-canonical *** redundancy afforded by an olfactory system in which neurons co-express multiple chemosensory receptors may increase the robustness of the mosquito olfactory system and explain our long-standing inability to disrupt the detection of humans by mosquitoes.

关键词： expression. canonical dioxide

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The genetics of Primary Microcephaly

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Genomics and Human genetics 1000年第1期19卷 177-200页

作者： Divya Jayaraman Byoung-Il Bae Christopher A. Walsh 3Current affiliation: Boston Combined Residency Program (Child Neurology) Boston Children's Hospital Boston Massachusetts 02115 USA email: divya.jayaraman@childrens.harvard.edu 2Harvard-MIT MD-PhD Program Harvard Medical School Boston Massachusetts 02115 USA 1Division of Genetics and Genomics Manton Center for Orphan Disease Research and Howard Hughes Medical Institute Boston Children's Hospital Boston Massachusetts 02115 USA 4Department of Neurosurgery Yale University School of Medicine New Haven Connecticut 06510 USA email: byoung-il.bae@yale.edu 6Departments of Pediatrics and Neurology Harvard Medical School Boston Massachusetts 02115 USA email: christopher.walsh@childrens.harvard.edu 5Broad Institute of MIT and Harvard Cambridge Massachusetts 02142 USA

Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain development that results in a head circumference more than 3 standard deviations below the mean for age and gender. It has a wide variety of causes, including toxic exposures, in utero infections, and metabolic conditions. While the genetic microcephaly syndromes are relatively rare, studying these syndromes can reveal molecular mechanisms that are critical in the regulation of neural progenitor cells, brain size, and human brain evolution. Many of the causative genes for MCPH encode centrosomal proteins involved in centriole biogenesis. However, other MCPH genes fall under different mechanistic categories, notably DNA replication and repair. Recent gene discoveries and functional studies have implicated novel cellular processes, such as cytokinesis, centromere and kinetochore function, transmembrane or intracellular transport, Wnt signaling, and autophagy, as well as the apical polarity complex. Thus, MCPH genes implicate a wide variety of molecular and cellular mechanisms in the regulation of cerebral cortical size during development.

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