WordNet

the learned profession that is mastered by graduate study in a law school and that is responsible for the judicial system; "he studied law at Yale" (同)practice of law
the collection of rules imposed by authority; "civilization presupposes respect for the law"; "the great problem for jurisprudence to allow freedom while enforcing order" (同)jurisprudence
a generalization that describes recurring facts or events in nature; "the laws of thermodynamics" (同)law of nature
a rule or body of rules of conduct inherent in human nature and essential to or binding upon human society (同)natural_law
legal document setting forth rules governing a particular kind of activity; "there is a law against kidnapping"
of or relating to Gregor Mendel or in accord with Mendels laws; "Mendelian inheritance"
a follower of Mendelism
the syllable naming the sixth (submediant) note of a major or minor scale in solmization (同)lah

PrepTutorEJDIC

〈U〉《the ~》《集合的に》(法律・法規を総称して)『法』 / 〈U〉〈C〉(個々の)『法律』,法規 / 〈U〉法の[統制]力 / 〈U〉法律学 / 〈U〉弁護士[業] / 〈U〉《the law》警察[力],警官(police) / 〈U〉法の適用(発動);訴訟(legal action) / 〈C〉(科学・芸術などでの)法則,きまり / 〈C〉〈U〉(一般に従うべき)おきて,ならわし,規則
メンデルの法則の,メンデルの
ラ(全音階の第6音)
liter[s]

UpToDate Contents

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1. 単一遺伝子疾患（メンデル遺伝病とそれ以外の遺伝病）の遺伝パターンinheritance patterns of monogenic disorders mendelian and non mendelian [show details]
… observed, but the pattern of inheritance within a family appears to violate Mendel laws. Inheritance can appear to be non-Mendelian because multiple genes impact the phenotype expression, or because, despite …
2. 遺伝学：用語集genetics glossary of terms [show details]
…"cytogenetic analysis." The relationship that exists between two loci that violate the Mendelian law of independent assortment and therefore segregate in families in a non-random fashion. Non-independent …
3. 抗酸菌易感染性を示すメンデル型遺伝性疾患：概要mendelian susceptibility to mycobacterial diseases an overview [show details]
… The conditions grouped together under Mendelian susceptibility to mycobacterial diseases (MSMD, MIM #209950) are caused by genetic defects affecting the interactions of mononuclear phagocytes and T helper …
4. メンデルランダム化mendelian randomization [show details]
…limitations of Mendelian randomization as a study design. The principles of Mendelian inheritance, which are the basis for randomization of this study design, are discussed separately. The Mendelian randomization… as described by Mendel second law of independent assortment of alleles. Mendel second law states that the inheritance of alleles at…
5. 抗酸菌易感染性を示すメンデル型遺伝性疾患：特異的な遺伝子異常mendelian susceptibility to mycobacterial diseases specific defects [show details]
… Mendelian susceptibility to mycobacterial diseases (MSMD, MIM #209950) is caused by genetic defects in the mononuclear phagocyte/T helper cell type 1 (Th1) pathway . Patients with MSMD have increased …

English Journal

The diagnosis and clinical significance of polyautoimmunity.

Anaya JM.Author information Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 # 63C-69, Piso 3, Bogota, Colombia. Electronic address: anayajm@gmail.com.AbstractAutoimmune diseases (ADs) are chronic and heterogeneous conditions that affect specific target organs or multiple organ systems. The chronic nature of these diseases places a significant burden on the utilization of medical care, direct and indirect economic costs, and quality of life. ADs are observed in genetically susceptible individuals in whom their clinical expression is modified by permissive and protective environments occurring over time. These are complex traits, meaning that their inheritance does not follow a single-gene dominant or single-gene recessive Mendelian law, and thus that they are polygenic. ADs are often diagnosed according to classification criteria, however they share similar subphenotypes including signs and symptoms, non-specific autoantibodies and other immune changes, which are prone to taxonomic problems. Polyautoimmunity is defined as the presence of more than one AD in a single patient. When three or more ADs coexist, this condition is called multiple autoimmune syndrome (MAS), which represents the best example of polyautoimmunity as well as the effect of a single genotype on diverse autoimmune phenotypes. Its study will provide important clues to elucidate the common mechanisms of ADs (i.e., the autoimmune tautology).
Autoimmunity reviews.Autoimmun Rev.2014 April - May;13(4-5):423-426. doi: 10.1016/j.autrev.2014.01.049. Epub 2014 Jan 11.
Autoimmune diseases (ADs) are chronic and heterogeneous conditions that affect specific target organs or multiple organ systems. The chronic nature of these diseases places a significant burden on the utilization of medical care, direct and indirect economic costs, and quality of life. ADs are obser
PMID 24424171

Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze.

Ferreira JC1, Schreiber-Agus N2, Carter SM3, Klugman S1, Gregg AR4, Gross SJ5.Author information 1Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine, Bronx, NY.2Department of Genetics, Albert Einstein College of Medicine, Bronx, NY.3Managing Partner at Law Offices of Suzanne M Carter, Englewood, NJ.4Department of Obstetrics and Gynecology, University of Florida College of Medicine, Gainesville Florida.5Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine, Bronx, NY. Electronic address: susan.gross@einstein.yu.edu.AbstractExciting developments in the fields of genetics and genomics have facilitated the identification of the etiological basis of many Mendelian disorders. Several of the methods used in gene discovery have focused initially on homogeneous populations, including the Ashkenazi Jewish (AJ) population. The founder effect is well recognized in this community, where historical events and cultural behaviors have resulted in a limited number of mutations underlying genetic disorders with substantial health impact. New technologies have made it possible to rapidly expand the test panels, changing testing paradigms and thereby creating challenges for the physician in deciphering the appropriate approach to genetic screening in this population. The goal of this review is to help primary obstetric health care providers navigate through this quickly moving field so as to better counsel and support their patients of Ashkenazi Jewish heritage.
American journal of obstetrics and gynecology.Am J Obstet Gynecol.2014 Feb 5. pii: S0002-9378(14)00117-3. doi: 10.1016/j.ajog.2014.02.001. [Epub ahead of print]
Exciting developments in the fields of genetics and genomics have facilitated the identification of the etiological basis of many Mendelian disorders. Several of the methods used in gene discovery have focused initially on homogeneous populations, including the Ashkenazi Jewish (AJ) population. The
PMID 24508465

A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.

Lehoczky JA1, Thomas PE, Patrie KM, Owens KM, Villarreal LM, Galbraith K, Washburn J, Johnson CN, Gavino B, Borowsky AD, Millen KJ, Wakenight P, Law W, Van Keuren ML, Gavrilina G, Hughes ED, Saunders TL, Brihn L, Nadeau JH, Innis JW.Author information 1Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.AbstractMouse early transposon insertions are responsible for ~10% of spontaneous mutant phenotypes. We previously reported the phenotypes and genetic mapping of Polypodia, (Ppd), a spontaneous, X-linked dominant mutation with profound effects on body plan morphogenesis. Our new data shows that mutant mice are not born in expected Mendelian ratios secondary to loss after E9.5. In addition, we refined the Ppd genetic interval and discovered a novel ETnII-β early transposon insertion between the genes for Dusp9 and Pnck. The ETn inserted 1.6 kb downstream and antisense to Dusp9 and does not disrupt polyadenylation or splicing of either gene. Knock-in mice engineered to carry the ETn display Ppd characteristic ectopic caudal limb phenotypes, showing that the ETn insertion is the Ppd molecular lesion. Early transposons are actively expressed in the early blastocyst. To explore the consequences of the ETn on the genomic landscape at an early stage of development, we compared interval gene expression between wild-type and mutant ES cells. Mutant ES cell expression analysis revealed marked upregulation of Dusp9 mRNA and protein expression. Evaluation of the 5' LTR CpG methylation state in adult mice revealed no correlation with the occurrence or severity of Ppd phenotypes at birth. Thus, the broad range of phenotypes observed in this mutant is secondary to a novel intergenic ETn insertion whose effects include dysregulation of nearby interval gene expression at early stages of development.
PLoS genetics.PLoS Genet.2013 Dec;9(12):e1003967. doi: 10.1371/journal.pgen.1003967. Epub 2013 Dec 5.
Mouse early transposon insertions are responsible for ~10% of spontaneous mutant phenotypes. We previously reported the phenotypes and genetic mapping of Polypodia, (Ppd), a spontaneous, X-linked dominant mutation with profound effects on body plan morphogenesis. Our new data shows that mutant mice
PMID 24339789