Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticumSpringer Science and Business Media LLC - Tập 109 - Trang 356-365 - 2001
Leena Pulkkinen, Aoi Nakano, Franziska Ringpfeil, Jouni Uitto
Pseudoxanthoma elasticum (PXE), a heritable disorder affecting the skin, eyes, and the cardiovascular system, has recently been linked to mutations in the ABCC6 gene on chromosome 16p13.1. The original mutation detection strategy employed by us consisted of the amplification of each exon of the ABCC6 gene with primer pairs placed on the flanking introns, followed by heteroduplex scanning and direc...... hiện toàn bộ
Isoenzymes and population genetics of sorbit dehydrogenase (EC: 1.1.1.14) in swine (sus scrofa)Springer Science and Business Media LLC - Tập 7 - Trang 258-259 - 1969
J. Op't Hof
A method is described for detecting the enzyme sorbit dehydrogenase (SDH) after starchgel electrophoresis. Activity of this enzyme occurs predominantly in liver, kidney, thyroid and testis. It was found that this enzyme exists in multiple molecular forms. Three electrophoretic phenotypes were observed apparently representing two different homozygotes and the corresponding heterozygote. These findi...... hiện toàn bộ
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2Springer Science and Business Media LLC - Tập 142 - Trang 73-88 - 2022
Anne Christians, Esra Kesdiren, Imke Hennies, Alejandro Hofmann, Mark-Oliver Trowe, Frank Brand, Helge Martens, Ann Christin Gjerstad, Zoran Gucev, Matthias Zirngibl, Robert Geffers, Tomáš Seeman, Heiko Billing, Anna Bjerre, Velibor Tasic, Andreas Kispert, Benno Ure, Dieter Haffner, Jens Dingemann, Ruthild G. Weber
Most patients with congenital anomalies of the kidney and urinary tract (CAKUT) remain genetically unexplained. In search of novel genes associated with CAKUT in humans, we applied whole-exome sequencing in a patient with kidney, anorectal, spinal, and brain anomalies, and identified a rare heterozygous missense variant in the DACT1 (dishevelled binding antagonist of beta catenin 1) gene encoding ...... hiện toàn bộ
Identification of a break-prone structure in the 9q1 heterochromatic regionSpringer Science and Business Media LLC - Tập 86 - Trang 261-264 - 1991
Zissis Mamuris, Alain Aurias, Bernard Dutrillaux
The unusual behaviour of the 9q1 human chromosome region is studied in various conditions. In controls with normal chromosomes 9, del(9q1) is the most frequent spontaneously occurring deletion. This deletion is highly inducible by melphalan, an S phase-dependent alkylating agent. This may correspond to the uncovering of pre-existing DNA breaks in this region. In a 46,XX,9qh+ control, melphalan doe...... hiện toàn bộ
XY gonadal dysgenesis and the H-Y antigenSpringer Science and Business Media LLC - Tập 47 - Trang 269-277 - 1979
Ulrich Wolf
H-Y antigen was determined in 12 patients affected by XY gonadal dysgenesis. Of these, three proved to be H-Y negative, and nine, including two sisters, were H-Y positive; two of the unrelated positive cases exhibited a reduced antigen titer. Therefore, this clinical condition must be genetically heterogeneous. It is assumed that in the negative cases and possibly in those with reduced antigen tit...... hiện toàn bộ
Brachydactylia with symphalangism, probably autosomal recessiveSpringer Science and Business Media LLC - - 1976
Roland Walbaum, Claude Hazard, Roger Cordier
Association, in one patient, of the following malformations: brachydactylia of all segments but terminal phalanges; proximal symphalangism of many fingers and toes; abnormalities of carpal and tarsal bones; partial duplication of both big toes; mild hypertelorism. Genetic transmission seems to be recessive autosomal.