Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery by Binbin Chen, Russ B. Altman

“…Results We have developed a pipeline that combines natural language processing and human curation to mine promising targets for drug development from the Online Mendelian Inheritance in Man (OMIM) database. This pipeline targets diseases caused by well-characterized gain-of-function mutations or loss-of-function proteins with known allosteric activators. …”
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A Woman and Her Father with Calcium-Sensing Receptor Mutation and Autosomal Dominant Hypocalcemia by Bhisit Changcharoen, MD, Megan Motosue, MD, Lisa Wong, MD, Richard Arakaki, MD

“…This warrants the need for genetic testing in adults with mild hypocalcemia and a family history of hypocalcemia.Abbreviations: ADH = autosomal dominant hypocalcemia CaSR = calcium-sensing receptor iPTH = intact parathyroid hormone OMIM = Online Mendelian Inheritance in Man TMD = transmembrane domain…”
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Resistance to an eriophyid mite in an interspecific hybrid pedigree of Populus. by George Newcombe, Wellington Muchero, Posy E Busby

“…In addition to finding evidence for Mendelian inheritance, we found two QTLs with LOD scores 5.03 and 3.12 mapped on linkage groups (LG) III and I, and they explained 6.7 and 4.2% of the phenotypic variance, respectively. …”
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A Comprehensive Evaluation of Disease Phenotype Networks for Gene Prioritization. by Jianhua Li, Xiaoyan Lin, Yueyang Teng, Shouliang Qi, Dayu Xiao, Jianying Zhang, Yan Kang

“…The phenotypic similarity among diseases may reflect the interactions at the molecular level, and phenotype comparison can be used to predict disease candidate genes. Online Mendelian Inheritance in Man (OMIM) is a database of human genetic diseases and related genes that has become an authoritative source of disease phenotypes. …”
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Copy number variation in the porcine genome inferred from a 60 k SNP BeadChip by Fernández Ana I, Souza Carla A, Mercadé Anna, Alves Estefania, Pena Romi N, Castelló Anna, Ramayo-Caldas Yuliaxis, Perez-Enciso Miguel, Folch Josep M

“…A total of 49 CNVRs were identified in 55 animals from an Iberian x Landrace cross (IBMAP) according to three criteria: detected in at least two animals, contained three or more consecutive SNPs and recalled by at least two programs. Mendelian inheritance of CNVRs was confirmed in animals belonging to several generations of the IBMAP cross. …”
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Application of a New Probabilistic Model for Mining Implicit Associated Cancer Genes from OMIM and Medline by Shanfeng Zhu, Yasushi Okuno, Gozoh Tsujimoto, Hiroshi Mamitsuka

“…We have applied a new probabilistic model, called mixture aspect model (MAM) [ 48 ], to combine different types of co-occurrences of genes and cancer derived from Medline and OMIM (Online Mendelian Inheritance in Man). We trained the probability parameters of MAM using a learning method based on an EM (Expectation and Maximization) algorithm. …”
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Herança genética e desequilíbrio de ligação em locos de isoenzimas em Esenbeckia leiocarpa. Genetic inheritance and linkage disequilibrium in isozymes loci of Esenbeckia leiocarpa.... by Carlos Eduardo Sícole SEOANE, Alexandre Magno SEBBENN

“…Four allozyme systems were monomorphic (IDH, PGM, 6PGDH and SKDH) and four polymorphic (EST, PGI, MDH and PER). Mendelian inheritance was confirmed for four loci by testing the fit of band-pattern to 1:1 expected segregation ratio in progeny from heterozygous trees. …”
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Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 by Ochando I, Alonzo Martínez MC, Serrano AM, Urbano A, Cazorla E, Calvo D, Rueda J

“…We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. …”
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Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis by Federica Tiberio, Ornella Parolini, Wanda Lattanzi

“…CS is clinically heterogeneous, as it can be either a sporadic isolated defect, more frequently, or part of a syndromic phenotype with mendelian inheritance. The genetic basis of CS is also extremely heterogeneous, with nearly a hundred genes associated so far, mostly mutated in syndromic forms. …”
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Using <i>Paramecium</i> as a Model for Ciliopathies by Megan Valentine, Judith Van Houten

“…<i>Paramecium</i> has served as a model organism for the studies of many aspects of genetics and cell biology: non-Mendelian inheritance, genome duplication, genome rearrangements, and exocytosis, to name a few. …”
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The Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma by Stefania Pellegrini, Lisa Elefanti, Luigi Dall’Olmo, Chiara Menin

“…On the other hand, familial melanoma aggregation may be due to a Mendelian inheritance of high/moderate-penetrance pathogenic variants affecting melanoma risk, regardless of the nevus count. …”
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From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart Defects by Martin Broberg, Johanna Hästbacka, Emmi Helle

“…While variants following Mendelian inheritance have been identified by linkage analysis in a few families with multiple affected members, the inheritance pattern in most familial cases is complex, with reduced penetrance and variable expressivity. …”
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Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis by Rehab Al Jawad, Omhani Malibari

“…Background: Alpha-mannosidosis [Online Mendelian Inheritance in Man (OMIM): 248500] is an autosomal recessive disorder due to a deficiency of the lysosomal enzyme alpha-mannosidase. …”
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Meiotic Cas9 expression mediates gene conversion in the male and female mouse germline. by Alexander J Weitzel, Hannah A Grunwald, Ceri Weber, Rimma Levina, Valentino M Gantz, Stephen M Hedrick, Ethan Bier, Kimberly L Cooper

“…We suggest that more robust Cas9 expression initiated during early meiosis I may improve the efficiency of gene conversion and further increase the rate of "super-mendelian" inheritance from both male and female mice.…”
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Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology by Magda K. Kadlubowska, Isabelle Schrauwen

“…We discuss extended analysis methods to consider, non-Mendelian inheritance models, mosaicism, dual/multiple diagnoses, periodic re-analysis, artificial intelligence tools, and deep phenotyping, in addition to integrating various omics methods to improve variant prioritization. …”
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Recent advances in congenital heart disease genomics [version 1; referees: 2 approved] by Anna Wilsdon, Alejandro Sifrim, Marc-Phillip Hitz, Matthew Hurles, J. David Brook

“…Whilst a number of genes have been identified previously from investigation of families with Mendelian inheritance patterns, sequencing the DNA from large cohorts of individuals with congenital heart disease is now providing fresh insights into the genetics of these conditions. …”
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Soma-to-germline transmission of RNA in mice xenografted with human tumour cells: possible transport by exosomes. by Cristina Cossetti, Luana Lugini, Letizia Astrologo, Isabella Saggio, Stefano Fais, Corrado Spadafora

“…Growing studies underscore phenotypic variations and increased risk of pathologies that are transgenerationally inherited in a non-Mendelian fashion in the absence of any classically identifiable mutation or predisposing genetic lesion in the genome of individuals who develop the disease. Non-Mendelian inheritance is most often transmitted through the germline in consequence of primary events occurring in somatic cells, implying soma-to-germline transmission of information. …”
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The Evolutionary Dynamics of a Sex-Structured Population with Non-Overlapping Generations by Oksana Revutskaya, Galina Neverova, Oksana Zhdanova, Efim Frisman

“…We consider a panmictic population with Mendelian inheritance rules. We examine the stability model and show that increasing the average value of reproductive potential destabilizes the population dynamics. …”
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When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes by Althari, S, Gloyn, A

“…In this review, we focus on the newly emerging challenges which pertain to the interpretation of sequence variants in genes implicated in the pathogenesis of maturity onset diabetes of the young (MODY), a presumed monogenic form of diabetes characterized by Mendelian inheritance. These challenges highlight the complexities surrounding the assignments of pathogenicity, in particular to rare protein-alerting variants, and bring to the forefront some profound clinical diagnostic implications. …”

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders by Boulding, H, Webber, C

“…Of the 2,086 candidate genes that contribute to these associations, 65% have not been previously associated with human disease in Online Mendelian Inheritance in Man, and their distribution suggests both extensive pleiotropy and epistasis while also proposing a small number of simple additive consequences. © 2012 Wiley Periodicals, Inc.…”