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Autor:
Andreas R. Janecke, Georg F. Vogel, Thomas Müller, Katharina M.C. Klee, Lukas A. Huber, Peter Heinz-Erian, Štefan Rosipal, Hasret Ayyıldız Civan
Publikováno v:
Human Genetics
Congenital diarrheal disorders (CDD) comprise > 50 monogenic entities featuring chronic diarrhea of early-onset, including defects in nutrient and electrolyte absorption, enterocyte polarization, enteroendocrine cell differentiation, and epithelial i
Autor:
Emma Tabe Eko Niba, Atsuko Takeuchi, Hiroyuki Awano, Masafumi Matsuo, Atsushi Nishida, Maki Minegishi
Publikováno v:
Human Genetics. 134:993-1001
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by mutations in the dystrophin gene. One-third of DMD cases are complicated by mental retardation. Here, we used reverse transcription PCR to analyze the pattern of dyst
Autor:
Euvgeni Vlodavsky, Liron Berger, Ayelet Eran, Ayala Ofir, Daniella Magen, Dorit Goldsher, Yakov Fellig, Nasser Katib, Shay Tzur, Hanna Mandel, Yousif Nijem, Doron M. Behar
Publikováno v:
Human Genetics. 134:305-314
Lissencephaly comprises a heterogeneous group of developmental brain disorders of varying severity, involving abnormal cortical gyration. We studied a highly consanguineous Israeli Moslem family with a lethal form of autosomal recessive lissencephaly
Autor:
Zhaojing Zheng, Xiaoqing Zhang, Huimin Li, Zhigang Wang, Haiqing Cai, Haiou Yang, Xingchen Ye, Qihua Fu
Publikováno v:
Human genetics. 135(10)
Congenital talipes equinovarus (CTEV) is one of the most common musculoskeletal disorders. Genetic factors have been suggested to be an important contributor to its pathogenesis. Some genes, including PITX1, TBX4, and RBM10, have been associated with
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group
Autor:
Gudrun Nürnberg, Jan Freudenberg, Dost Muhammad Baloch, Johannes Oldenburg, Katrin Friedrich, Shakeela Daud, Jamil Ahmad, Guntram Borck, Rüstem Yilmaz, Christian Kubisch, Naseebullah Kakar, Jochen Hoch, Peter Nürnberg
Publikováno v:
Human Genetics. 131:209-216
We performed homozygosity mapping in a consanguineous Pakistani family segregating autosomal-recessive congenital cataracts and identified linkage to a 3.03 Mb locus on chromosome 6p24 containing the GCNT2 gene. GCNT2 encodes glucosaminyl (N-acetyl)
Autor:
Erica K.M. Reeves, Po Zhao, Heather Gordish-Dressman, Brennan Harmon, Stephanie A. Devaney, Eric P. Hoffman, Joseph M. Devaney
Publikováno v:
Human Genetics. 128:635-645
A small 12-kb haplotype upstream of the AKT1 gene has been found to be associated with insulin resistance phenotypes. We sought to define the functional consequences of the three component polymorphic loci (rs1130214, rs10141867, rs33925946) on AKT1
Autor:
Lida Zoetekouw, Raymon Vijzelaar, Jörgen Bierau, Judith Meijer, Raoul C.M. Hennekam, Peter Miny, Jan M.N. Hoovers, Andrea Capone Mori, Brian Fowler, Peter Weber, Joost Nicolai, Julia B. Hennermann, Bauke Ylstra, André B.P. van Kuilenburg, Christine E. M. de Die-Smulders, M. Estela Rubio-Gozalbo, Adri Mul, Rutger Meinsma, Klaus Macke, Jörn Oliver Sass
Publikováno v:
Human Genetics, 125(5-6), 581-590. Springer Verlag
Human genetics, 125(5-6), 581-590. Springer Verlag
van Kuilenburg, A B P, Meijer, J, Mul, A N P M, Hennekam, R C M, Hoovers, J M N, de Die-Smulders, C E M, Weber, P, Mori, A C, Bierau, J, Fowler, B, Macke, K, Sass, J O, Meinsma, R, Hennermann, J B, Miny, P, Zoetekouw, L, Vijzelaar, R, Nicolai, J, Ylstra, B & Rubio-Gozalbo, M E 2009, ' Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3) ', Human Genetics, vol. 125, no. 5-6, pp. 581-590 . https://doi.org/10.1007/s00439-009-0653-6
Human genetics, 125(5-6), 581-590. Springer Verlag
van Kuilenburg, A B P, Meijer, J, Mul, A N P M, Hennekam, R C M, Hoovers, J M N, de Die-Smulders, C E M, Weber, P, Mori, A C, Bierau, J, Fowler, B, Macke, K, Sass, J O, Meinsma, R, Hennermann, J B, Miny, P, Zoetekouw, L, Vijzelaar, R, Nicolai, J, Ylstra, B & Rubio-Gozalbo, M E 2009, ' Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3) ', Human Genetics, vol. 125, no. 5-6, pp. 581-590 . https://doi.org/10.1007/s00439-009-0653-6
Dihydropyrimidine dehydrogenase (DPD) deficiency is an infrequently described autosomal recessive disorder of the pyrimidine degradation pathway and can lead to mental and motor retardation and convulsions. DPD deficiency is also known to cause a pot
Publikováno v:
Human Genetics. 123:521-529
Hereditary pancreatitis, an autosomal dominant disease with approximately 80% penetrance, can be caused by both 'gain-of-function' missense and copy number mutations in the cationic trypsinogen gene (PRSS1). Here we demonstrate a heterozygous hybrid
Autor:
Yoichi Kohno, Hideki Uchikawa, Masao Yamada, Shumpei Ishikawa, Toshiyuki Miyashita, Keith W. Jones, Hiroyuki Aburatani, Fan Shen, Katsunori Fujii, Kimio Sasaki, Yoko Tanaka, Hiroshi Arai, Michael H. Shapero, Daisuke Komura, Jing Hung
Publikováno v:
Human Genetics. 122:459-466
Small submicroscopic genomic deletions and duplications constitute up to 15% of all mutations underlying human monogenic diseases. In this study, we used newly designed high-resolution oligonucleotide microarrays with a median distance between the pr
Autor:
Toshinori Omi, Khadbaatar Zolzaya, Sadahiko Iwamoto, Batmunkh Erdenebulgan, Kazuhiro Nakayama, Nanami Utsumi, Takaya Gotoh, Lkhagvasuren Munkhtulga, Tserenkhuu Lkhagvasuren, Yoshiko Yanagisawa, Maki Kumada
Publikováno v:
Human Genetics. 120:879-888
Increased levels of retinol binding protein 4 (RBP4) in serum is associated with insulin resistance. To examine this further, the genomic region of RBP4 was genetically surveyed in Mongolian people, who as a group are suffering from a recent rapid in