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Journal articles on the topic 'Human abnormalities'

Author: Grafiati
Published: 4 June 2021
Last updated: 29 July 2024

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1

Winter, Robin M. "Analysing human developmental abnormalities." BioEssays 18, no. 12 (December 1996): 965–71. http://dx.doi.org/10.1002/bies.950181206.

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2

Benirschke, Kurt. "Abnormalities of the Human Placenta." NeoReviews 6, no. 9 (September 2005): e414-e423. http://dx.doi.org/10.1542/neo.6-9-e414.

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3

Munne, S. "Chromosome abnormalities in human embryos." Human Reproduction Update 4, no. 6 (November 1, 1998): 842–55. http://dx.doi.org/10.1093/humupd/4.6.842.

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4

McFadden, Deborah E., and J. M. Friedman. "Chromosome abnormalities in human beings." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 396, no. 1-2 (December 1997): 129–40. http://dx.doi.org/10.1016/s0027-5107(97)00179-6.

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5

Ferguson-Smith, M. A. "Abnormalities of human sex determination." Journal of Inherited Metabolic Disease 15, no. 4 (July 1992): 518–25. http://dx.doi.org/10.1007/bf01799610.

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6

Tsokos, G. C. "Lymphocyte abnormalities in human lupus." Clinical Immunology and Immunopathology 63, no. 1 (April 1992): 7–9. http://dx.doi.org/10.1016/0090-1229(92)90083-z.

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7

Linker-Israeli, Mariana. "Cytokine abnormalities in human lupus." Clinical Immunology and Immunopathology 63, no. 1 (April 1992): 10–12. http://dx.doi.org/10.1016/0090-1229(92)90084-2.

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8

Chung, Sung Ik, Sang Heun Baik, and Hong Tage Kim. "Chromosomal Abnormalities in Human Hepatoma." Korean Journal of Physical Anthropology 8, no. 2 (1995): 185. http://dx.doi.org/10.11637/kjpa.1995.8.2.185.

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9

Dadoune, J. P. "Ultrastructural abnormalities of human spermatozoa*." Human Reproduction 3, no. 3 (April 1988): 311–18. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136701.

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10

Björntorp, Per. "Neuroendocrine abnormalities in human obesity." Metabolism 44 (February 1995): 38–41. http://dx.doi.org/10.1016/0026-0495(95)90208-2.

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11

Stratton, M. R., J. Darling, P. L. Lantos, C. S. Cooper, and B. R. Reeves. "Cytogenetic abnormalities in human ependymomas." International Journal of Cancer 44, no. 4 (October 15, 1989): 579–81. http://dx.doi.org/10.1002/ijc.2910440403.

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12

Tagliavini, J., S. A. Gandolfi, and G. Maraini. "Cytoskeleton abnormalities in human senile cataract." Current Eye Research 5, no. 12 (January 1986): 903–10. http://dx.doi.org/10.3109/02713688608995170.

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13

Byrne, Edward. "Mitochondrial DNA abnormalities in human disease." Medical Journal of Australia 154, no. 10 (May 1991): 646–47. http://dx.doi.org/10.5694/j.1326-5377.1991.tb121246.x.

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14

Villegas, Ana, Fernando A. Gonzalez, and Eduardo Anguita. "Gfi1b Association to Human Hematological Abnormalities." Blood 108, no. 11 (November 16, 2006): 3748. http://dx.doi.org/10.1182/blood.v108.11.3748.3748.

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Abstract Lineage specific transcription factors play essential roles in regulation of hematopoietic development. Transcription factor abnormalities have been frequently described in acute leukemia, mostly through cytogenetic changes. Nevertheless, point mutations can be easily missed. Recently, mutations in the erythroid and megakaryocyte specific transcription factor GATA1 have been discovered in patients with dyserythropoietic anemia and acute megakaryoblastic leukemia (AML-M7) with Down syndrome. Besides GATA-1, located on the X-chromosome, point mutations have been described in biallelic genes. This is the case of AML1 (RUNX1). PU1 and C/EBPalpha also represent examples of transcription factors in which point mutations are found in leukemia. A new zinc finger transcription factor involved in erythropoiesis is Gfi1b. Gfi1b was recently identified by sequence homology with oncogene Gfi1. Gfi1b knockout has demonstrated that this gene is essential for development of both erythroid and megakaryocytic lineages, and in its absence no enucleated erythrocytes are produced. Several Gfi1b DNA and protein targets (GATA1, Gfi1, AML1, p21WAF1, IL-6 Socs1 and Socs2) have been described that might be involved in malignancy. These findings indicate that Gfi1b is at the centre of hematopoiesis and may be a good candidate gene to be involved in hematological abnormalities. We have searched for Gfi1b point mutations in 122 patients with acute leukemia of all FAB types at diagnosis or relapse and 9 cases of congenital dyserythropoietic anemia. We have amplified Gfi1b promoter, coding and non-coding exons (Nucleic Acids Res2004;32:3935–46, MN 004188) by high fidelity PCR and screen for point mutations through dHPLC (Wave, Transgenomic) followed by sequencing of the cases with abnormal pattern. SNIPs in the promoter and exons were further confirmed in at least another PCR, cloned in pGEM-T easy vector system (Promega) and sequenced. Alleles with promoter SNIPs were cloned in pGL3-Enhancer vector (Promega), and transiently cotransfected with pEGFP-C2 (Clontech) to K562 cells. Luciferase activity was determined with Dual-Luciferase Reporter Assay (Promega). We found two promoter SNIPs in sequences conserved from chicken to human, one of them affecting a GATA-1 site, reducing promoter in vitro activity by 60 and 50% respectively. We also discovered a congenital exonic SNIP causing a mammalian conserved serine change to leucine. We excluded these to be frequent polymorphisms by dHPLC analysis of 96 blood donors. Although we cannot at present establish a clear relation between the former SNIPS and leukemia, we will discuss the presence of other milder hematological abnormalities. So far this is the first report of Gfi1b mutations that can be related to human pathology.
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15

Cryns, V. L. "p53 abnormalities in human parathyroid carcinoma." Journal of Clinical Endocrinology & Metabolism 78, no. 6 (June 1, 1994): 1320–24. http://dx.doi.org/10.1210/jc.78.6.1320.

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16

Martin, Renée H. "Meiotic chromosome abnormalities in human spermatogenesis." Reproductive Toxicology 22, no. 2 (August 2006): 142–47. http://dx.doi.org/10.1016/j.reprotox.2006.03.013.

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17

Quigley, Anita, Robert Kapsa, Edward Byrne, and George Hale. "Mitochondrial abnormalities in human dilated cardiomyopathy." Journal of Cardiac Failure 4, no. 3 (September 1998): 15. http://dx.doi.org/10.1016/s1071-9164(98)90055-0.

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18

Migeon, Claude J., and Amy B. Wisniewski. "Human sex differentiation and its abnormalities." Best Practice & Research Clinical Obstetrics & Gynaecology 17, no. 1 (February 2003): 1–18. http://dx.doi.org/10.1053/ybeog.2003.0354.

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19

Cryns, V. L., M. P. Rubio, A. D. Thor, D. N. Louis, and A. Arnold. "p53 abnormalities in human parathyroid carcinoma." Journal of Clinical Endocrinology & Metabolism 78, no. 6 (June 1994): 1320–24. http://dx.doi.org/10.1210/jcem.78.6.8200932.

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20

Fragouli, E., D. Wells, and J. D. A. Delhanty. "Chromosome Abnormalities in the Human Oocyte." Cytogenetic and Genome Research 133, no. 2-4 (2011): 107–18. http://dx.doi.org/10.1159/000323801.

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21

Hassold, Terry J. "Chromosome abnormalities in human reproductive wastage." Trends in Genetics 2 (January 1986): 105–10. http://dx.doi.org/10.1016/0168-9525(86)90194-0.

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22

Lo Presti, Rosalia, Eugenia Hopps, and Gregorio Caimi. "Hemorheological abnormalities in human arterial hypertension." Korea-Australia Rheology Journal 26, no. 2 (May 2014): 199–204. http://dx.doi.org/10.1007/s13367-014-0021-5.

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23

Otsuki, Junko. "Intracytoplasmic Morphological Abnormalities in Human Oocytes." Journal of Mammalian Ova Research 26, no. 1 (April 2009): 26–31. http://dx.doi.org/10.1274/jmor.26.26.

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24

Bigner, Sandra H., Joachim Mark, Henry S. Friedman, Jaclyn A. Biegel, and Darell D. Bigner. "Structural chromosomal abnormalities in human medulloblastoma." Cancer Genetics and Cytogenetics 30, no. 1 (January 1988): 91–101. http://dx.doi.org/10.1016/0165-4608(88)90096-9.

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25

Mars, Wendy M., and Grady F. Saunders. "Chromosomal abnormalities in human breast cancer." CANCER AND METASTASIS REVIEW 9, no. 1 (July 1990): 35–43. http://dx.doi.org/10.1007/bf00047587.

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26

CHATENOUD, LUCIENNE. "Immunoregulatory Abnormalities in Primary Human Glomerulonephritis." Clinics in Immunology and Allergy 6, no. 2 (June 1986): 395–409. http://dx.doi.org/10.1016/s0260-4639(22)00084-6.

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27

George, Varghese, Sethu Babu, Sahoo RS, and Jha RK. "Lipid profile abnormalities in human immunodeficiency virus infected patients- a hospital based study." Asian Pacific Journal of Health Sciences 2, no. 1 (January 2015): 76–81. http://dx.doi.org/10.21276/apjhs.2015.2.1.13.

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28

Little, Karley Y., Lian Zhang, Timothy Desmond, Kirk A. Frey, Gregory W. Dalack, and Bader J. Cassin. "Striatal Dopaminergic Abnormalities in Human Cocaine Users." American Journal of Psychiatry 156, no. 2 (February 1, 1999): 238–45. http://dx.doi.org/10.1176/ajp.156.2.238.

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29

Handyside, AH. "Abnormalities of human preimplantation development in vitro." Reproduction, Fertility and Development 4, no. 5 (1992): 481. http://dx.doi.org/10.1071/rd9920481.

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30

Munne, S., C. Magli, A. Adler, G. Wright, K. de Boer, D. Mortimer, M. Tucker, J. Cohen, and L. Gianaroli. "Treatment-related chromosome abnormalities in human embryos." Human Reproduction 12, no. 4 (April 1, 1997): 780–84. http://dx.doi.org/10.1093/humrep/12.4.780.

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31

Abdul-Latif, Hussein, Milton R. Brown, and John S. Parks. "Abnormalities of the Human Growth Hormone Gene." Endocrinologist 3, no. 6 (November 1993): 409–14. http://dx.doi.org/10.1097/00019616-199311000-00009.

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32

Steinberger, E., and E. Weidman. "Abnormalities of Spermatogenesis in the Human Testes." Seminars in Reproductive Medicine 6, no. 04 (November 1988): 309–21. http://dx.doi.org/10.1055/s-2007-1021367.

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33

CLERICI, MARIO, MASSIMO GALLI, SIMONA BOSIS, CRISTINA GERVASONI, MAURO MORONI, and GUIDO NORBIATO. "Immunoendocrinologic Abnormalities in Human Immunodeficiency Virus Infection." Annals of the New York Academy of Sciences 917, no. 1 (January 25, 2006): 956–61. http://dx.doi.org/10.1111/j.1749-6632.2000.tb05462.x.

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34

Pope, F. M., and A. C. Nicholls. "Molecular abnormalities of collagen in human disease." Archives of Disease in Childhood 62, no. 5 (May 1, 1987): 523–28. http://dx.doi.org/10.1136/adc.62.5.523.

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35

Lambert-Messerlian, G. M., H. Pinar, E. Laprade, U. Tantravahi, A. Schneyer, and J. A. Canick. "Inhibins and activins in human fetal abnormalities." Molecular and Cellular Endocrinology 225, no. 1-2 (October 2004): 101–8. http://dx.doi.org/10.1016/j.mce.2004.02.019.

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36

Krakoff, Irwin H., and M. Earl Balis. "ABNORMALITIES OF PURINE METABOLISM IN HUMAN LEUKEMIA*." Annals of the New York Academy of Sciences 113, no. 2 (December 16, 2006): 1043–52. http://dx.doi.org/10.1111/j.1749-6632.1964.tb40722.x.

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37

Gallion, H. H., D. E. Powell, L. W. Smith, J. K. Morrow, A. W. Martin, J. R. van Nagell, and E. S. Donaldson. "Chromosome abnormalities in human epithelial ovarian malignancies." Gynecologic Oncology 38, no. 3 (September 1990): 473–77. http://dx.doi.org/10.1016/0090-8258(90)90094-2.

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38

Gallion, HH, DE Powell, LW Smith, JK Morrow, AW Martin, JR Van Nagell, and ES Donaldson. "Chromosome abnormalities in human epithelial ovarian malignancies." International Journal of Gynecology & Obstetrics 36, no. 1 (September 1991): 79. http://dx.doi.org/10.1016/0020-7292(91)90191-7.

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39

Edvard Smith, C. I., and Lennart Hammarström. "Gene abnormalities in human immunoglobulin deficiency disorders." Clinical Immunology Newsletter 7, no. 10 (October 1986): 145–49. http://dx.doi.org/10.1016/0197-1859(86)90060-9.

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40

Yawata, Yoshihito. "Band 4.2 Abnormalities in Human Red Cells." American Journal of the Medical Sciences 307, no. 3 (March 1994): 190–203. http://dx.doi.org/10.1097/00000441-199403000-00006.

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41

WEISBERG, LEON A. "Neurologic Abnormalities in Human Immunodeficiency Virus Infection." Southern Medical Journal 94, no. 3 (March 2001): 266–75. http://dx.doi.org/10.1097/00007611-200103000-00001.

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42

WEISBERG, LEON A. "Neurologic Abnormalities in Human Immunodeficiency Virus Infection." Southern Medical Journal 94, no. 3 (March 2001): 266–75. http://dx.doi.org/10.1097/00007611-200194030-00001.

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43

Pastakia, K. B., N. E. Brownson, D. A. Terle, and B. J. Poindexter. "Amphotericin B induced abnormalities in human platelets." Molecular Pathology 49, no. 5 (October 1, 1996): M301—M307. http://dx.doi.org/10.1136/mp.49.5.m301.

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44

Plachot, M., and N. Crozet. "Fertilization abnormalities in human in-vitro fertilization." Human Reproduction 7, suppl 1 (June 1, 1992): 89–94. http://dx.doi.org/10.1093/humrep/7.suppl_1.89.

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45

Sandberg, Avery A. "Chromosome abnormalities in human cancer and leukemia." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 247, no. 2 (April 1991): 231–40. http://dx.doi.org/10.1016/0027-5107(91)90019-k.

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46

Grammatico, P., M. L. Lo Re, S. Scarpa, A. Modesti, and G. Del Porto. "Human malignant melanoma significance of chromosomal abnormalities." Cancer Genetics and Cytogenetics 48, no. 2 (September 1990): 237–42. http://dx.doi.org/10.1016/0165-4608(90)90126-u.

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47

Sebag, J. "Abnormalities of human vitreous structure in diabetes." Graefe's Archive for Clinical and Experimental Ophthalmology 231, no. 5 (May 1993): 257–60. http://dx.doi.org/10.1007/bf00919101.

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48

Potluri, Venkateswara R., Lawrence Helson, Robert M. Ellsworth, Theodore Reid, and Fred Gilbert. "Chromosomal abnormalities in human retinoblastoma a review." Cancer 58, no. 3 (August 1, 1986): 663–71. http://dx.doi.org/10.1002/1097-0142(19860801)58:3<663::aid-cncr2820580311>3.0.co;2-g.

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49

Uckun, FM, KJ Gajl-Peczalska, AJ Provisor, and NA Heerema. "Immunophenotype-karyotype associations in human acute lymphoblastic leukemia." Blood 73, no. 1 (January 1, 1989): 271–80. http://dx.doi.org/10.1182/blood.v73.1.271.271.

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Abstract The present study is a detailed analysis of the cytogenetic features of leukemic cells from 104 immunologically classified acute lymphoblastic leukemia (ALL) (78 B lineage and 26 T lineage) cases. Clonal chromosomal abnormalities were found in marrow blasts from 77 of 104 (74%) cases. Hyperdiploidy was much more frequent in B-lineage ALL cases, whereas normal diploidy was more common in T-lineage ALL cases. Fifty-nine of 104 cases (46 of 78 B-lineage ALL and 13 of 26 T-lineage ALL cases) had structural chromosomal abnormalities. Structural abnormalities involving 2p11, 7p13, 7p22, proximal q arm of 7 (7q11 or 7q22), 11q23–24, and translocations involving 12p11–13 appeared to be B- lineage specific. By comparison, structural abnormalities involving 7p15, 7q32, and 14q11 displayed T-lineage specificity. Structural abnormalities involving 9p22-p23 or 14q32, del (6)(q21-q23), del (12)(p11-p13), and the Philadelphia chromosome were found in B-lineage as well as T-lineage ALL cases. This study expands the current knowledge about immunophenotype-karyotype associations in ALL.
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50

Uckun, FM, KJ Gajl-Peczalska, AJ Provisor, and NA Heerema. "Immunophenotype-karyotype associations in human acute lymphoblastic leukemia." Blood 73, no. 1 (January 1, 1989): 271–80. http://dx.doi.org/10.1182/blood.v73.1.271.bloodjournal731271.

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The present study is a detailed analysis of the cytogenetic features of leukemic cells from 104 immunologically classified acute lymphoblastic leukemia (ALL) (78 B lineage and 26 T lineage) cases. Clonal chromosomal abnormalities were found in marrow blasts from 77 of 104 (74%) cases. Hyperdiploidy was much more frequent in B-lineage ALL cases, whereas normal diploidy was more common in T-lineage ALL cases. Fifty-nine of 104 cases (46 of 78 B-lineage ALL and 13 of 26 T-lineage ALL cases) had structural chromosomal abnormalities. Structural abnormalities involving 2p11, 7p13, 7p22, proximal q arm of 7 (7q11 or 7q22), 11q23–24, and translocations involving 12p11–13 appeared to be B- lineage specific. By comparison, structural abnormalities involving 7p15, 7q32, and 14q11 displayed T-lineage specificity. Structural abnormalities involving 9p22-p23 or 14q32, del (6)(q21-q23), del (12)(p11-p13), and the Philadelphia chromosome were found in B-lineage as well as T-lineage ALL cases. This study expands the current knowledge about immunophenotype-karyotype associations in ALL.
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