Regional chromosome 12 mapping: information from a family with a (12;21) reciprocal translocation

1978 ◽  
Vol 22 (1-6) ◽  
pp. 478-481
Author(s):  
T. Gedde-Dahl, Jr. ◽  
I.L. Hansteen ◽  
M.K. Fagerhol ◽  
B. Olaisen
Keyword(s):  
Reciprocal Translocation ◽  
Chromosome 12 ◽  
Regional Chromosome ◽  
Mapping Information

scholarly journals Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis

2015 ◽  
Vol 308 (12) ◽  
pp. F1335-F1342 ◽  
Author(s):  
Muriel T. Davisson ◽  
Susan A. Cook ◽  
Ellen C. Akeson ◽  
Don Liu ◽  
Caleb Heffner ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
Kidney Development ◽  
Age Of Onset ◽  
Chromosome 12 ◽  
Recessive Mutation ◽  
New Mutation ◽  
Mammalian Kidney

Many genes, including odd-skipped related 1 ( Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis.

Localization of MODY3 to a 5-cM region of human chromosome 12

Diabetes ◽  
1995 ◽  
Vol 44 (12) ◽  
pp. 1408-1413 ◽  
Author(s):  
S. Menzel ◽  
K. Yamagata ◽  
J. B. Trabb ◽  
J. Nerup ◽  
M. A. Permutt ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Chromosome 12

scholarly journals Extraction of organic chemistry grammar from unsupervised learning of chemical reactions

2021 ◽  
Vol 7 (15) ◽  
pp. eabe4166
Author(s):  
Philippe Schwaller ◽  
Benjamin Hoover ◽  
Jean-Louis Reymond ◽  
Hendrik Strobelt ◽  
Teodoro Laino
Keyword(s):  
Organic Chemistry ◽  
Neural Networks ◽  
Chemical Synthesis ◽  
Unsupervised Learning ◽  
Chemical Reactions ◽  
Data Driven ◽  
Experimental Task ◽  
Rule Based ◽  
Atom Mapping ◽  
Mapping Information

Humans use different domain languages to represent, explore, and communicate scientific concepts. During the last few hundred years, chemists compiled the language of chemical synthesis inferring a series of “reaction rules” from knowing how atoms rearrange during a chemical transformation, a process called atom-mapping. Atom-mapping is a laborious experimental task and, when tackled with computational methods, requires continuous annotation of chemical reactions and the extension of logically consistent directives. Here, we demonstrate that Transformer Neural Networks learn atom-mapping information between products and reactants without supervision or human labeling. Using the Transformer attention weights, we build a chemically agnostic, attention-guided reaction mapper and extract coherent chemical grammar from unannotated sets of reactions. Our method shows remarkable performance in terms of accuracy and speed, even for strongly imbalanced and chemically complex reactions with nontrivial atom-mapping. It provides the missing link between data-driven and rule-based approaches for numerous chemical reaction tasks.

Numerical Chromosome Aberrations in Fibrothecoma

1992 ◽  
Vol 78 (2) ◽  
pp. 140-142 ◽  
Author(s):  
Paola Dal Cin ◽  
Philippe Moerman ◽  
Ivo De Wever ◽  
Herman Van Den Berghe
Keyword(s):  
Chromosome Aberrations ◽  
Genital Tract ◽  
Cytogenetic Analysis ◽  
Female Genital Tract ◽  
Chromosome 12 ◽  
Mesenchymal Tumors ◽  
Extra Copy ◽  
Embryonic Origin ◽  
Numerical Chromosome ◽  
Female Genital

Cytogenetic analysis on a 7-day-old culture of a fibrothecoma showed only numerical chromosome abnormalities: 57, XX, +4, +5, +6, +10, + 12, +12, +14, +17, +18, +19, +20. The finding of an extra copy of chromosome 12 in mesenchymal tumors, mostly benign and originating from the female genital tract, may possibly point towards their common embryonic origin.

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