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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Inheritance Patterns

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Disease relevance of Inheritance Patterns


Psychiatry related information on Inheritance Patterns


High impact information on Inheritance Patterns


Chemical compound and disease context of Inheritance Patterns


Biological context of Inheritance Patterns


Anatomical context of Inheritance Patterns


Associations of Inheritance Patterns with chemical compounds

  • Subsequently, mutations in the GLRA1 gene, encoding the alpha1 subunit of the glycine receptor, were found in hyperekplexia families with an autosomal dominant or recessive inheritance pattern [24].
  • The observed reduction in Vmax values for the parents supports an autosomal recessive inheritance pattern and may be a more sensitive indicator of heterozygosity than serum carnitine concentrations.(ABSTRACT TRUNCATED AT 250 WORDS)[25]
  • Specifically, inheritance patterns derived from C3H/HeJ (C3) and C57BL/6J (B6) parental strains suggest that differences in hypoxic ventilatory response (HVR) are controlled by as few as two genes [26].
  • Levels of dopamine in the dorsal and middle caudate-putamen varied according to a simple inheritance pattern, being high in males from AS, F1 and F1 x AS/AGU back crosses without locomotor impairment, but lower in AS/AGU and F1 x AS/AGU back crosses with disordered gait [27].
  • Current research on thyroxine has primarily examined its adaptive potential and genetic inheritance patterns [28].

Gene context of Inheritance Patterns

  • These data provide insight into the possible disease mechanisms underlying EGR2 mutations and the reason for varying severity and differences in inheritance patterns [29].
  • Aprt homozygous deficient animals were viable though the mendelian inheritance pattern was skewed [30].
  • One-half of the unrelated subjects were either homozygous or heterozygous for the mutant NAT1 alleles, both of which obeyed a Mendelian inheritance pattern [31].
  • A biallelic polymorphism was found in the second intron of the SOX9 gene and analysis of this marker in the Ellobius family revealed an inheritance pattern completely independent of the sex of the animals [32].
  • In cases where the inheritance pattern is unclear and in sporadic cases the epsilon4 allele of the apolipoprotein E gene (APOE) has been identified as a major risk factor contributing to the pathogenesis of AD in about 20% of the cases [33].


  1. Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Friedman, E., Bale, A.E., Carson, E., Boson, W.L., Nordenskjöld, M., Ritzén, M., Ferreira, P.C., Jammal, A., De Marco, L. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  2. Gene defect behind APECED: a new clue to autoimmunity. Björses, P., Aaltonen, J., Horelli-Kuitunen, N., Yaspo, M.L., Peltonen, L. Hum. Mol. Genet. (1998) [Pubmed]
  3. Desmin myopathy. Goldfarb, L.G., Vicart, P., Goebel, H.H., Dalakas, M.C. Brain (2004) [Pubmed]
  4. A multigenerational family with multiple sclerosis. Dyment, D.A., Cader, M.Z., Willer, C.J., Risch, N., Sadovnick, A.D., Ebers, G.C. Brain (2002) [Pubmed]
  5. Transcriptional activation by the homeodomain protein distal-less 3. Feledy, J.A., Morasso, M.I., Jang, S.I., Sargent, T.D. Nucleic Acids Res. (1999) [Pubmed]
  6. Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome. Williams, T.E., Buchhalter, J.R., Sussman, M.D. Pediatric neurology. (1996) [Pubmed]
  7. A controlled study of psychopathology and associated symptoms in Tourette syndrome. Rickards, H., Robertson, M. World J. Biol. Psychiatry (2003) [Pubmed]
  8. A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Ryan, S.G., Buckwalter, M.S., Lynch, J.W., Handford, C.A., Segura, L., Shiang, R., Wasmuth, J.J., Camper, S.A., Schofield, P., O'Connell, P. Nat. Genet. (1994) [Pubmed]
  9. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Sabouri, L.A., Mahadevan, M.S., Narang, M., Lee, D.S., Surh, L.C., Korneluk, R.G. Nat. Genet. (1993) [Pubmed]
  10. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Baysal, B.E., Ferrell, R.E., Willett-Brozick, J.E., Lawrence, E.C., Myssiorek, D., Bosch, A., van der Mey, A., Taschner, P.E., Rubinstein, W.S., Myers, E.N., Richard, C.W., Cornelisse, C.J., Devilee, P., Devlin, B. Science (2000) [Pubmed]
  11. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Kaukonen, J., Juselius, J.K., Tiranti, V., Kyttälä, A., Zeviani, M., Comi, G.P., Keränen, S., Peltonen, L., Suomalainen, A. Science (2000) [Pubmed]
  12. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. Ma, D., Shield, J.P., Dean, W., Leclerc, I., Knauf, C., Burcelin R, R., Rutter, G.A., Kelsey, G. J. Clin. Invest. (2004) [Pubmed]
  13. The ACVD task force on canine atopic dermatitis (II): genetic factors. Sousa, C.A., Marsella, R. Vet. Immunol. Immunopathol. (2001) [Pubmed]
  14. Hyperoxaluria type I: therapeutic effects of pyridoxine hydrochloride and inheritance patterns of the disease in a family. Yano, S., Yoshino, M., Nishiyori, A., Nakao, M., Matsumoto, T., Ito, Y., Yamashita, F., Shimada, A., Inokuchi, T. The Kurume medical journal. (1988) [Pubmed]
  15. Development of a strain of rabbits with congenital simple nonsyndromic coronal suture synostosis. Part I: Breeding demographics, inheritance pattern, and craniofacial anomalies. Mooney, M.P., Losken, H.W., Siegel, M.I., Lalikos, J.F., Losken, A., Smith, T.D., Burrows, A.M. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. (1994) [Pubmed]
  16. Heterozygous mutations of OTX2 cause severe ocular malformations. Ragge, N.K., Brown, A.G., Poloschek, C.M., Lorenz, B., Henderson, R.A., Clarke, M.P., Russell-Eggitt, I., Fielder, A., Gerrelli, D., Martinez-Barbera, J.P., Ruddle, P., Hurst, J., Collin, J.R., Salt, A., Cooper, S.T., Thompson, P.J., Sisodiya, S.M., Williamson, K.A., Fitzpatrick, D.R., van Heyningen, V., Hanson, I.M. Am. J. Hum. Genet. (2005) [Pubmed]
  17. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Ikeda, Y., Dalton, J.C., Moseley, M.L., Gardner, K.L., Bird, T.D., Ashizawa, T., Seltzer, W.K., Pandolfo, M., Milunsky, A., Potter, N.T., Shoji, M., Vincent, J.B., Day, J.W., Ranum, L.P. Am. J. Hum. Genet. (2004) [Pubmed]
  18. Patterns of maternal transmission in bipolar affective disorder. McMahon, F.J., Stine, O.C., Meyers, D.A., Simpson, S.G., DePaulo, J.R. Am. J. Hum. Genet. (1995) [Pubmed]
  19. Characterization of a genomic hybrid specifying the human erythrocyte antigen Dantu: Dantu gene is duplicated and linked to a delta glycophorin gene deletion. Huang, C.H., Blumenfeld, O.O. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  20. Structure-function analyses of thrombomodulin by gene-targeting in mice: the cytoplasmic domain is not required for normal fetal development. Conway, E.M., Pollefeyt, S., Cornelissen, J., DeBaere, I., Steiner-Mosonyi, M., Weitz, J.I., Weiler-Guettler, H., Carmeliet, P., Collen, D. Blood (1999) [Pubmed]
  21. Telomere variation in Xenopus laevis. Bassham, S., Beam, A., Shampay, J. Mol. Cell. Biol. (1998) [Pubmed]
  22. Inheritance of acetohexamide reductase activities in liver microsomes and cytosol of rats. Imamura, Y., Takada, H., Kimura, R., Mori, Y., Otagiri, M. Life Sci. (1996) [Pubmed]
  23. Myotonic dystrophy in a large Sicilian kinship: a case report. Trifiletti, R., Parano, E., Falsaperla, R., Incorpora, G. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. (1995) [Pubmed]
  24. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. Vergouwe, M.N., Tijssen, M.A., Peters, A.C., Wielaard, R., Frants, R.R. Ann. Neurol. (1999) [Pubmed]
  25. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Tein, I., De Vivo, D.C., Bierman, F., Pulver, P., De Meirleir, L.J., Cvitanovic-Sojat, L., Pagon, R.A., Bertini, E., Dionisi-Vici, C., Servidei, S. Pediatr. Res. (1990) [Pubmed]
  26. Selected contribution: variation in acute hypoxic ventilatory response is linked to mouse chromosome 9. Tankersley, C.G. J. Appl. Physiol. (2001) [Pubmed]
  27. Neostriatal dopamine depletion and locomotor abnormalities due to the Albino Swiss rat agu mutation. Campbell, J.M., Payne, A.P., Gilmore, D.P., Byrne, J.E., Russell, D., McGadey, J., Clarke, D.J., Davies, R.W., Sutcliffe, R.G. Neurosci. Lett. (1996) [Pubmed]
  28. Genetic and environmental components of thyroxine variation in Mennonites from Kansas and Nebraska. Martin, L.J., Crawford, M.H. Hum. Biol. (1998) [Pubmed]
  29. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Warner, L.E., Svaren, J., Milbrandt, J., Lupski, J.R. Hum. Mol. Genet. (1999) [Pubmed]
  30. Determination of spontaneous loss of heterozygosity mutations in Aprt heterozygous mice. Van Sloun, P.P., Wijnhoven, S.W., Kool, H.J., Slater, R., Weeda, G., van Zeeland, A.A., Lohman, P.H., Vrieling, H. Nucleic Acids Res. (1998) [Pubmed]
  31. Structural heterogeneity of Caucasian N-acetyltransferase at the NAT1 gene locus. Vatsis, K.P., Weber, W.W. Arch. Biochem. Biophys. (1993) [Pubmed]
  32. Exclusion of SOX9 as the testis determining factor in Ellobius lutescens: evidence for another testis determining gene besides SRY and SOX9. Baumstark, A., Akhverdyan, M., Schulze, A., Reisert, I., Vogel, W., Just, W. Mol. Genet. Metab. (2001) [Pubmed]
  33. Molecular genetics of Alzheimer's disease. Cruts, M., Van Broeckhoven, C. Ann. Med. (1998) [Pubmed]
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