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  • 1
    Publication Date: 2006-11-11
    Description: The molecular mechanisms controlling human hair growth and scalp hair loss are poorly understood. By screening about 350,000 individuals in two populations from the Volga-Ural region of Russia, we identified a gene mutation in families who show an inherited form of hair loss and a hair growth defect. Affected individuals were homozygous for a deletion in the LIPH gene on chromosome 3q27, caused by short interspersed nuclear element-retrotransposon-mediated recombination. The LIPH gene is expressed in hair follicles and encodes a phospholipase called lipase H (alternatively known as membrane-associated phosphatidic acid-selective phospholipase A1alpha), an enzyme that regulates the production of bioactive lipids. These results suggest that lipase H participates in hair growth and development.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kazantseva, Anastasiya -- Goltsov, Andrey -- Zinchenko, Rena -- Grigorenko, Anastasia P -- Abrukova, Anna V -- Moliaka, Yuri K -- Kirillov, Alexander G -- Guo, Zhiru -- Lyle, Stephen -- Ginter, Evgeny K -- Rogaev, Evgeny I -- K08-AR02179/AR/NIAMS NIH HHS/ -- New York, N.Y. -- Science. 2006 Nov 10;314(5801):982-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Brudnick Neuropsychiatric Research Institute, Department of Psychiatry, University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17095700" target="_blank"〉PubMed〈/a〉
    Keywords: Alu Elements ; Amino Acid Sequence ; Base Sequence ; Chromosomes, Human, Pair 3/genetics ; Exons ; Female ; Gene Deletion ; Gene Expression ; Genetic Markers ; Hair/*growth & development ; Hair Follicle/enzymology ; Heterozygote ; Homozygote ; Humans ; Hypotrichosis/*genetics ; Lipase/chemistry/*genetics/metabolism ; Lipid Metabolism ; Lod Score ; Male ; Molecular Sequence Data ; Pedigree ; Protein Structure, Tertiary ; Recombination, Genetic ; Retroelements ; Russia ; Tandem Repeat Sequences
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 2009-10-10
    Description: The "royal disease," a blood disorder transmitted from Queen Victoria to European royal families, is a striking example of X-linked recessive inheritance. Although the disease is widely recognized to be a form of the blood clotting disorder hemophilia, its molecular basis has never been identified, and the royal disease is now likely extinct. We identified the likely disease-causing mutation by applying genomic methodologies (multiplex target amplification and massively parallel sequencing) to historical specimens from the Romanov branch of the royal family. The mutation occurs in F9, a gene on the X chromosome that encodes blood coagulation factor IX, and is predicted to alter RNA splicing and to lead to production of a truncated form of factor IX. Thus, the royal disease is the severe form of hemophilia, also known as hemophilia B or Christmas disease.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rogaev, Evgeny I -- Grigorenko, Anastasia P -- Faskhutdinova, Gulnaz -- Kittler, Ellen L W -- Moliaka, Yuri K -- New York, N.Y. -- Science. 2009 Nov 6;326(5954):817. doi: 10.1126/science.1180660. Epub 2009 Oct 8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA. Evgeny.Rogaev@umassmed.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19815722" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Chromosomes, Human, X/genetics ; Codon, Nonsense ; Europe ; Factor IX/*genetics ; *Famous Persons ; Female ; Genes, X-Linked ; Genotype ; Hemophilia B/*genetics/history ; Heterozygote ; History, 19th Century ; History, 20th Century ; Humans ; Introns ; Male ; Pedigree ; *Point Mutation ; *RNA Splicing
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 3
    Publication Date: 2014-05-23
    Description: The origins of neural systems remain unresolved. In contrast to other basal metazoans, ctenophores (comb jellies) have both complex nervous and mesoderm-derived muscular systems. These holoplanktonic predators also have sophisticated ciliated locomotion, behaviour and distinct development. Here we present the draft genome of Pleurobrachia bachei, Pacific sea gooseberry, together with ten other ctenophore transcriptomes, and show that they are remarkably distinct from other animal genomes in their content of neurogenic, immune and developmental genes. Our integrative analyses place Ctenophora as the earliest lineage within Metazoa. This hypothesis is supported by comparative analysis of multiple gene families, including the apparent absence of HOX genes, canonical microRNA machinery, and reduced immune complement in ctenophores. Although two distinct nervous systems are well recognized in ctenophores, many bilaterian neuron-specific genes and genes of 'classical' neurotransmitter pathways either are absent or, if present, are not expressed in neurons. Our metabolomic and physiological data are consistent with the hypothesis that ctenophore neural systems, and possibly muscle specification, evolved independently from those in other animals.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4337882/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4337882/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Moroz, Leonid L -- Kocot, Kevin M -- Citarella, Mathew R -- Dosung, Sohn -- Norekian, Tigran P -- Povolotskaya, Inna S -- Grigorenko, Anastasia P -- Dailey, Christopher -- Berezikov, Eugene -- Buckley, Katherine M -- Ptitsyn, Andrey -- Reshetov, Denis -- Mukherjee, Krishanu -- Moroz, Tatiana P -- Bobkova, Yelena -- Yu, Fahong -- Kapitonov, Vladimir V -- Jurka, Jerzy -- Bobkov, Yuri V -- Swore, Joshua J -- Girardo, David O -- Fodor, Alexander -- Gusev, Fedor -- Sanford, Rachel -- Bruders, Rebecca -- Kittler, Ellen -- Mills, Claudia E -- Rast, Jonathan P -- Derelle, Romain -- Solovyev, Victor V -- Kondrashov, Fyodor A -- Swalla, Billie J -- Sweedler, Jonathan V -- Rogaev, Evgeny I -- Halanych, Kenneth M -- Kohn, Andrea B -- 1R01GM097502/GM/NIGMS NIH HHS/ -- 1S10RR027052/RR/NCRR NIH HHS/ -- 55007424/Howard Hughes Medical Institute/ -- 5R21DA030118/DA/NIDA NIH HHS/ -- P30 DA018310/DA/NIDA NIH HHS/ -- R01 AG029360/AG/NIA NIH HHS/ -- R01 GM097502/GM/NIGMS NIH HHS/ -- R01 MH097062/MH/NIMH NIH HHS/ -- R01MH097062/MH/NIMH NIH HHS/ -- R21 DA030118/DA/NIDA NIH HHS/ -- R21 RR025699/RR/NCRR NIH HHS/ -- R21RR025699/RR/NCRR NIH HHS/ -- S10 RR027052/RR/NCRR NIH HHS/ -- England -- Nature. 2014 Jun 5;510(7503):109-14. doi: 10.1038/nature13400. Epub 2014 May 21.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] The Whitney Laboratory for Marine Bioscience, University of Florida, 9505 Ocean Shore Blvd, St Augustine, Florida 32080, USA [2] Department of Neuroscience & McKnight Brain Institute, University of Florida, Gainesville, Florida 32611, USA [3] Friday Harbor Laboratories, University of Washington, Friday Harbor, Washington 98250, USA. ; Department of Biological Sciences, Auburn University, 101 Rouse Life Sciences, Auburn, Alabama 36849, USA. ; The Whitney Laboratory for Marine Bioscience, University of Florida, 9505 Ocean Shore Blvd, St Augustine, Florida 32080, USA. ; 1] The Whitney Laboratory for Marine Bioscience, University of Florida, 9505 Ocean Shore Blvd, St Augustine, Florida 32080, USA [2] Friday Harbor Laboratories, University of Washington, Friday Harbor, Washington 98250, USA. ; 1] Centre for Genomic Regulation (CRG), Dr. Aiguader 88, 08003 Barcelona, Spain [2] Universitat Pompeu Fabra (UPF), Barcelona 08003, Spain. ; 1] Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, 303 Belmont Street, Worcester, Massachusetts 01604, USA [2] Vavilov Institute of General Genetics, Russian Academy of Sciences (RAS), Gubkina 3, Moscow 119991, Russia. ; Department of Chemistry and the Beckman Institute for Advanced Science and Technology, University of Illinois Urbana-Champaign, Urbana, Illinois 61801, USA. ; European Research Institute for the Biology of Ageing, University of Groningen Medical Center, Antonius Deusinglaan 1, Building 3226, Room 03.34, 9713 AV Groningen, The Netherlands. ; Department of Medical Biophysics and Department of Immunology, University of Toronto, Sunnybrook Research Institute 2075 Bayview Avenue, Toronto, Ontario M4N 3M5, Canada. ; Vavilov Institute of General Genetics, Russian Academy of Sciences (RAS), Gubkina 3, Moscow 119991, Russia. ; Department of Neuroscience & McKnight Brain Institute, University of Florida, Gainesville, Florida 32611, USA. ; Genetic Information Research Institute, 1925 Landings Dr., Mountain View, California 94043, USA. ; Program in Molecular Medicine, University of Massachusetts Medical School, 222 Maple Avenue, Shrewsbury, Massachusetts 01545, USA. ; Friday Harbor Laboratories, University of Washington, Friday Harbor, Washington 98250, USA. ; Department of Computer Science, Royal Holloway, University of London, Egham, Surrey TW20 0EX, UK. ; 1] Centre for Genomic Regulation (CRG), Dr. Aiguader 88, 08003 Barcelona, Spain [2] Universitat Pompeu Fabra (UPF), Barcelona 08003, Spain [3] Institucio Catalana de Recerca i Estudis Avancats (ICREA), Pg. Lluis Companys 23, 08010 Barcelona, Spain. ; 1] Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, 303 Belmont Street, Worcester, Massachusetts 01604, USA [2] Vavilov Institute of General Genetics, Russian Academy of Sciences (RAS), Gubkina 3, Moscow 119991, Russia [3] Center for Brain Neurobiology and Neurogenetics and Institute of Cytology and Genetics, RAS, Lavrentyev Avenue, 10, Novosibirsk 630090, Russia [4] Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Leninskiye Gory, 119991 Moscow, Russia.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24847885" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Ctenophora/classification/*genetics/immunology/physiology ; *Evolution, Molecular ; Genes, Developmental ; Genes, Homeobox ; Genome/*genetics ; Mesoderm/metabolism ; Metabolomics ; MicroRNAs ; Molecular Sequence Data ; Muscles/physiology ; *Nervous System/metabolism ; Neurons/metabolism ; Neurotransmitter Agents ; Phylogeny ; Transcriptome/genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 4
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Initial studies of the SI82 gene suggested the existence of other genes with similar sequences1. Searches of nucleotide sequence database by using the BLASTX alignment program uncovered three expressed sequence-tagged sequences (ESTs) (T03796, and subsequently R14600 and ...
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  • 5
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating ...
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  • 6
    ISSN: 1608-3369
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Associations of the VNTR-17 and 5-HTTLPR polymorphisms of the serotonin transporter gene with affective disorders, including depression, have been found. These polymorphisms were analyzed in two groups of Russian probands: patients with endogenous psychoses and control individuals without mental disorders (423 and 277 persons, respectively). No associations were found between VNTR-17 genotypes or alleles and the diseases. However, the frequency of10/10 (VNTR-17) homozygotes increased with age in both patients and healthy persons. The results of the analysis of the 5-HTTLPR polymorphism suggest an association of the short (s) allele of the 5-HTTLPR polymorphism with schizophrenia and schizoaffective psychoses, but not with affective disorders.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Bulletin of experimental biology and medicine 103 (1987), S. 64-66 
    ISSN: 1573-8221
    Keywords: interindividual polymorphism ; structure of genome ; molecular marker
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Bulletin of experimental biology and medicine 110 (1990), S. 1712-1714 
    ISSN: 1573-8221
    Keywords: HIV-I ; genotype mapping ; glycoprotein
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Bulletin of experimental biology and medicine 110 (1990), S. 1550-1551 
    ISSN: 1573-8221
    Keywords: genome ; bacteriophage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 10
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