Paradoxic Mutations

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Neuromuscular Disorders of Infancy, Childhood, and Adolescence

Author : Basil T. Darras
Publisher : Elsevier
ISBN 13 : 0124171273
Total Pages : 1156 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Neuromuscular Disorders of Infancy, Childhood, and Adolescence by : Basil T. Darras

Download or read book Neuromuscular Disorders of Infancy, Childhood, and Adolescence written by Basil T. Darras and published by Elsevier. This book was released on 2014-12-03 with total page 1156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. - Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. - Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. - Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry

Jasper's Basic Mechanisms of the Epilepsies

Author : Jeffrey Noebels
Publisher : OUP USA
ISBN 13 : 0199746540
Total Pages : 1258 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Jasper's Basic Mechanisms of the Epilepsies by : Jeffrey Noebels

Download or read book Jasper's Basic Mechanisms of the Epilepsies written by Jeffrey Noebels and published by OUP USA. This book was released on 2012-06-29 with total page 1258 pages. Available in PDF, EPUB and Kindle. Book excerpt: Jasper's Basic Mechanisms, Fourth Edition, is the newest most ambitious and now clinically relevant publishing project to build on the four-decade legacy of the Jasper's series. In keeping with the original goal of searching for "a better understanding of the epilepsies and rational methods of prevention and treatment.", the book represents an encyclopedic compendium neurobiological mechanisms of seizures, epileptogenesis, epilepsy genetics and comordid conditions. Of practical importance to the clinician, and new to this edition are disease mechanisms of genetic epilepsies and therapeutic approaches, ranging from novel antiepileptic drug targets to cell and gene therapies.

Paradoxical Life

Author : Andreas Wagner
Publisher : Yale University Press
ISBN 13 : 0300156375
Total Pages : 271 pages
Book Rating : 4.3/5 (1 download)

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Book Synopsis Paradoxical Life by : Andreas Wagner

Download or read book Paradoxical Life written by Andreas Wagner and published by Yale University Press. This book was released on 2009-09-01 with total page 271 pages. Available in PDF, EPUB and Kindle. Book excerpt: What can a fingernail tell us about the mysteries of creation? In one sense, a nail is merely a hunk of mute matter, yet in another, it's an information superhighway quite literally at our fingertips. Every moment, streams of molecular signals direct our cells to move, flatten, swell, shrink, divide, or die. Andreas Wagner's ambitious new book explores this hidden web of unimaginably complex interactions in every living being. In the process, he unveils a host of paradoxes underpinning our understanding of modern biology, contradictions he considers gatekeepers at the frontiers of knowledge. Though we tend to think of concepts in such mutually exclusive pairs as mind-matter, self-other, and nature-nurture, Wagner argues that these opposing ideas are not actually separate. Indeed, they are as inextricably connected as the two sides of a coin. Through a tour of modern biological marvels, Wagner illustrates how this paradoxical tension has a profound effect on the way we define the world around us. Paradoxical Life is thus not only a unique account of modern biology. It ultimately serves a radical--and optimistic--outlook for humans and the world we help create.

Genetics of Adaptation

Author : Rodney Mauricio
Publisher : Springer Science & Business Media
ISBN 13 : 1402038364
Total Pages : 207 pages
Book Rating : 4.4/5 (2 download)

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Book Synopsis Genetics of Adaptation by : Rodney Mauricio

Download or read book Genetics of Adaptation written by Rodney Mauricio and published by Springer Science & Business Media. This book was released on 2005-07-20 with total page 207 pages. Available in PDF, EPUB and Kindle. Book excerpt: An enduring controversy in evolutionary biology is the genetic basis of adaptation. Darwin emphasized "many slight differences" as the ultimate source of variation to be acted upon by natural selection. In the early 1900’s, this view was opposed by "Mendelian geneticists", who emphasized the importance of "macromutations" in evolution. The Modern Synthesis resolved this controversy, concluding that mutations in genes of very small effect were responsible for adaptive evolution. A decade ago, Allen Orr and Jerry Coyne reexamined the evidence for this neo-Darwinian view and found that both the theoretical and empirical basis for it were weak. Orr and Coyne encouraged evolutionary biologists to reexamine this neglected question: what is the genetic basis of adaptive evolution? In this volume, a new generation of biologists have taken up this challenge. Using advances in both molecular genetic and statistical techniques, evolutionary geneticists have made considerable progress in this emerging field. In this volume, a diversity of examples from plant and animal studies provides valuable information for those interested in the genetics and evolution of complex traits.

Paroxysmal Movement Disorders

Author : Kapil D. Sethi
Publisher : Springer Nature
ISBN 13 : 3030537218
Total Pages : 145 pages
Book Rating : 4.0/5 (35 download)

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Book Synopsis Paroxysmal Movement Disorders by : Kapil D. Sethi

Download or read book Paroxysmal Movement Disorders written by Kapil D. Sethi and published by Springer Nature. This book was released on 2020-11-18 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.

Aneurysms-Osteoarthritis Syndrome

Author : Denise van der Linde
Publisher : Elsevier
ISBN 13 : 0128027118
Total Pages : 180 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Aneurysms-Osteoarthritis Syndrome by : Denise van der Linde

Download or read book Aneurysms-Osteoarthritis Syndrome written by Denise van der Linde and published by Elsevier. This book was released on 2016-10-03 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease. - Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care - Contains clinical management guidance on optimal cardiovascular treatments and surgery - Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene - Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features

The Paradoxical Situation in Carcinogenesis

Author : George D. K. Gogichadze
Publisher : Cambridge Scholars Publishing
ISBN 13 : 1527542653
Total Pages : 166 pages
Book Rating : 4.5/5 (275 download)

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Book Synopsis The Paradoxical Situation in Carcinogenesis by : George D. K. Gogichadze

Download or read book The Paradoxical Situation in Carcinogenesis written by George D. K. Gogichadze and published by Cambridge Scholars Publishing. This book was released on 2019-11-01 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is dedicated to the ethical problems related to carcinogenesis. It discusses the karyogamic theory in a new light, using new arguments, and considers the prospects of cancer prevention and treatment. The current stage of scientific development fails to answer such questions as: What is a cancer cell? What is its essence? In the opinion of most cancer researchers, the genetic apparatus of the target cell should be responsible for the conversion of a tumour cell into a normal one. This book, however, highlights the often-disregarded role of non-DNA cellular elements in carcinogenesis. It also investigates the loss of contact inhibition of cancer cells, the cellular mechanism of malignization in the case of hemolytic anemia, and the high oncogenic risk of low and medium doses of carcinogens, as well as the common trigger mechanism of action of diametrically different carcinogens on target cells.

Chaos, Information Processing And Paradoxical Games: The Legacy Of John S Nicolis

Author : Gregoire Nicolis
Publisher : World Scientific
ISBN 13 : 9814602140
Total Pages : 474 pages
Book Rating : 4.8/5 (146 download)

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Book Synopsis Chaos, Information Processing And Paradoxical Games: The Legacy Of John S Nicolis by : Gregoire Nicolis

Download or read book Chaos, Information Processing And Paradoxical Games: The Legacy Of John S Nicolis written by Gregoire Nicolis and published by World Scientific. This book was released on 2014-12-30 with total page 474 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides a self-contained survey of the mechanisms presiding information processing and communication. The main thesis is that chaos and complexity are the basic ingredients allowing systems composed of interesting subunits to generate and process information and communicate in a meaningful way. Emphasis is placed on communication in the form of games and on the related issue of decision making under conditions of uncertainty. Biological, cognitive, physical, engineering and societal systems are approached from a unifying point of view, both analytically and by numerical simulation, using the methods of nonlinear dynamics and probability theory. Epistemological issues in connection with incompleteness and self-reference are also addressed.

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Epileptic Syndromes in Infancy, Childhood and Adolescence - 5th edition

Author : Bureau Michelle
Publisher : John Libbey Eurotext
ISBN 13 : 2742008292
Total Pages : 682 pages
Book Rating : 4.7/5 (42 download)

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Book Synopsis Epileptic Syndromes in Infancy, Childhood and Adolescence - 5th edition by : Bureau Michelle

Download or read book Epileptic Syndromes in Infancy, Childhood and Adolescence - 5th edition written by Bureau Michelle and published by John Libbey Eurotext. This book was released on 2012-11-12 with total page 682 pages. Available in PDF, EPUB and Kindle. Book excerpt: The ultimate reference book : the 5th updated edition of the famous “blue guide”. Incluided : A DVD with new sequences completes each chapter! Epileptology changes. The syndromic approach is completed by an etiological approach, based on the major advances in genetics and functional genetics. New entities have found their place, and a purely descriptive, “electroclinical” approach is no longer adapted in many circumstances. The 5th edition of the Blue Guide includes the most recent advances. It was necessary to justify the physiological, epidemiologic, genetic and therapeutic approaches and to consider them in the light of the new classification efforts, which are still in the making. Nevertheless, the description of epileptic syndromes, both classical and recent, remains at the core of this book.

Mutants and Mystics

Author : Jeffrey J. Kripal
Publisher : University of Chicago Press
ISBN 13 : 0226453839
Total Pages : 392 pages
Book Rating : 4.2/5 (264 download)

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Book Synopsis Mutants and Mystics by : Jeffrey J. Kripal

Download or read book Mutants and Mystics written by Jeffrey J. Kripal and published by University of Chicago Press. This book was released on 2011-11-15 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Account of how comic book heroes have helped their creators and fans alike explore and express a wealth of paranormal experiences ignored by mainstream science. Delving deeply into the work of major figures in the field - from Jack Kirby's cosmic superhero sagas and Philip K. Dick's futuristic head-trips to Alan Moore's sex magic and Whitley Strieber's communion with visitors - Kripal shows how creators turned to science fiction to convey the reality of the inexplicable and the paranormal they experienced in their lives. Expanded consciousness found its language in the metaphors of sci-fi - incredible powers, unprecedented mutations, time-loops and vast intergalactic intelligences - and the deeper influences of mythology and religion that these in turn drew from ; the wildly creative work that followed caught the imaginations of millions. Moving deftly from Cold War science and Fredric Wertham's anticomics crusade to gnostic revelation and alien abduction, Kripal spins out a hidden history of American culture, rich with mythical themes and shot through with an awareness that there are other realities far beyond our everyday understanding."--Jacket.

Neurogenetics, Part II

Author :
Publisher : Elsevier
ISBN 13 : 0444640770
Total Pages : 480 pages
Book Rating : 4.4/5 (446 download)

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Book Synopsis Neurogenetics, Part II by :

Download or read book Neurogenetics, Part II written by and published by Elsevier. This book was released on 2018-01-29 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. - Contains comprehensive coverage of neurogenetics - Details the latest science and its impact on our understanding of neurological, psychiatric disorders - Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

The Genetic Landscape of Diabetes

Author : Laura Dean
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (55 download)

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Book Synopsis The Genetic Landscape of Diabetes by : Laura Dean

Download or read book The Genetic Landscape of Diabetes written by Laura Dean and published by . This book was released on 2004 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Channelopathies

Author : F. Lehmann-Horn
Publisher : Elsevier
ISBN 13 : 0080528856
Total Pages : 383 pages
Book Rating : 4.0/5 (85 download)

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Book Synopsis Channelopathies by : F. Lehmann-Horn

Download or read book Channelopathies written by F. Lehmann-Horn and published by Elsevier. This book was released on 2000-11-16 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book describes human hereditary ion channel diseases of voltage- and ligand-gated ion channels covering the diverse fields of medicine myology, neurology, cardiology, and nephrology requiring a wide and interdisciplinary readership. Interesting parallels in pathogenetic mechanisms of disease are especially emphasized to interest even highly specialized readers in entities outside of their fields. Each author has written an objective overview of his or her particular subject in a way that should allow the reader within a short period of time to obtain a comprehensive picture of the present state of art.

Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases E-Book

Author : John E. Bennett
Publisher : Elsevier Health Sciences
ISBN 13 : 0323550274
Total Pages : 5208 pages
Book Rating : 4.3/5 (235 download)

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Book Synopsis Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases E-Book by : John E. Bennett

Download or read book Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases E-Book written by John E. Bennett and published by Elsevier Health Sciences. This book was released on 2019-08-08 with total page 5208 pages. Available in PDF, EPUB and Kindle. Book excerpt: For four decades, physicians and other healthcare providers have trusted Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases to provide expert guidance on the diagnosis and treatment of these complex disorders. The 9th Edition continues the tradition of excellence with newly expanded chapters, increased global coverage, and regular updates to keep you at the forefront of this vitally important field. Meticulously updated by Drs. John E. Bennett, Raphael Dolin, and Martin J. Blaser, this comprehensive, two-volume masterwork puts the latest information on challenging infectious diseases at your fingertips. - Provides more in-depth coverage of epidemiology, etiology, pathology, microbiology, immunology, and treatment of infectious agents than any other infectious disease resource. - Features an increased focus on antibiotic stewardship; new antivirals for influenza, cytomegalovirus, hepatitis C, hepatitis B., and immunizations; and new recommendations for vaccination against infection with pneumococci, papillomaviruses, hepatitis A, and pertussis. - Covers newly recognized enteroviruses causing paralysis (E-A71, E-D68); emerging viral infections such as Ebola, Zika, Marburg, SARS, and MERS; and important updates on prevention and treatment of C. difficile infection, including new tests that diagnose or falsely over-diagnose infectious diseases. - Offers fully revised content on bacterial pathogenesis, antibiotic use and toxicity, the human microbiome and its effects on health and disease, immunological mechanisms and immunodeficiency, and probiotics and alternative approaches to treatment of infectious diseases. - Discusses up-to-date topics such as use of the new PCR panels for diagnosis of meningitis, diarrhea and pneumonia; current management of infected orthopedic implant infections; newly recognized infections transmitted by black-legged ticks in the USA: Borrelia miyamotoi and Powassan virus; infectious complications of new drugs for cancer; new drugs for resistant bacteria and mycobacteria; new guidelines for diagnosis and therapy of HIV infections; and new vaccines against herpes zoster, influenza, meningococci. - PPID continues its tradition of including leading experts from a truly global community, including authors from Australia, Canada and countries in Europe, Asia, and South America. - Includes regular updates online for the life of the edition. - Features more than 1,500 high-quality, full-color photographs—with hundreds new to this edition. - Enhanced eBook version included with purchase, which allows you to access all of the text, figures, and references from the book on a variety of devices.

AACR 2022 Proceedings: Part A Online-Only and April 10

Author : American Association for Cancer Research
Publisher : CTI Meeting Technology
ISBN 13 : 1005372799
Total Pages : 2287 pages
Book Rating : 4.0/5 (53 download)

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Book Synopsis AACR 2022 Proceedings: Part A Online-Only and April 10 by : American Association for Cancer Research

Download or read book AACR 2022 Proceedings: Part A Online-Only and April 10 written by American Association for Cancer Research and published by CTI Meeting Technology. This book was released on 2022-05-09 with total page 2287 pages. Available in PDF, EPUB and Kindle. Book excerpt: The AACR Annual Meeting is the focal point of the cancer research community, where scientists, clinicians, other health care professionals, survivors, patients, and advocates gather to share the latest advances in cancer science and medicine. From population science and prevention; to cancer biology, translational, and clinical studies; to survivorship and advocacy; the AACR Annual Meeting highlights the work of the best minds in cancer research from institutions all over the world.

Male Sterility in Higher Plants

Author : Mohan L.H. Kaul
Publisher : Springer Science & Business Media
ISBN 13 : 3642831397
Total Pages : 1016 pages
Book Rating : 4.6/5 (428 download)

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Book Synopsis Male Sterility in Higher Plants by : Mohan L.H. Kaul

Download or read book Male Sterility in Higher Plants written by Mohan L.H. Kaul and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 1016 pages. Available in PDF, EPUB and Kindle. Book excerpt: " . . . . . . Nature has something more in view than that its own proper males should fecundate each blossom. " Andrew Knight Philosophical Transactions, 1799 Sterility implicating the male sex solely presents a paradoxical situation in which universality and uniqueness are harmoniously blended. It maintains a built-in outbreeding system but is not an isolating mechanism, as male steriles, the "self-emasculated" plants, outcross with their male fertile sibs normally. Both genes (nuclear and cytoplasmic) and environment, individually as well as conjointly, induce male sterility, the former being genetic and the latter nongenetic. Genetic male sterility is controlled either exclusively by nuclear genes (ms) or by the complementary action of nuclear (lr) and cytoplasmic (c) genes. The former is termed genic and the latter gene-cytoplasmic male sterility. Whereas genic male sterility exhibits Mendelian inheritance, gene-cytoplasmic male sterility is non-Mendelian, with specific transmissibility of the maternal cytoplasm type. Genetic male sterility is documented in 617 species and species crosses com prising 320 species, 162 genera and 43 families. Of these, genic male sterility occurs in 216 species and 17 species crosses and gene-cytoplasmic male sterility in 16 species and 271 species crosses. The Predominance of species exhibiting genic male sterility and of species crosses exhibiting gene-cytoplasmic male sterility is due to the fact that for the male sterility expression in the former, mutation of nuclear genes is required, but in the latter, mutations of both nuclear and cytoplasmic genes are necessary.