Search Results - "Jaruzelska, J"

The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction by Kusz, K.M., Tomczyk, L., Sajek, M., Spik, A., Latos-Bielenska, A., Jedrzejczak, P., Pawelczyk, L., Jaruzelska, J.

“…The highly conserved Nanos gene was found to encode a translational repressor necessary for germ-cell development in lower organisms. The mammalian homologue,…”
Get full text

The SNARE-associated component SNAPIN binds PUMILIO2 and NANOS1 proteins in human male germ cells by Ginter-Matuszewska, B., Spik, A., Rembiszewska, A., Koyias, C., Kupryjańczyk, J., Jaruzelska, J.

“…It has been reported that a highly conserved human protein PUMILIO2 forms a complex with NANOS1 in human male germ cells, as does the Drosophila ancestor…”
Get full text

Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects by Sharp, A, Kusz, K, Jaruzelska, J, Tapper, W, Szarras-Czapnik, M, Wolski, J, Jacobs, P

“…[...]translocations between distal Xp and Yp occur relatively frequently, resulting in the generation of 46,XX individuals, the majority of whom display an…”
Get full text

Is selection responsible for the low level of variation in the last intron of the ZFY locus? by Jaruzelska, J, Zietkiewicz, E, Labuda, D

“…DNA variability was investigated in the last intron of the Y-chromosome-specific zinc finger gene, ZFY, and its X homolog on Xp21.3, ZFX. No polymorphisms were…”
Get full text

Familial X/Y translocations associated with variable sexual phenotype by Sharp, A, Kusz, K, Jaruzelska, J, Szarras-Czapnik, M, Wolski, J, Jacobs, P

“…True hermaphroditism, defined clinically as the presence of both male and female gonadal tissue in the same individual usually accompanied by ambiguous…”
Get full text

Polymorphisms of the human PUMILIO2 gene and male sterility by Kusz, K., Ginter-Matuszewska, B., Ziolkowska, K., Spik, A., Bierla, J., Jedrzejczak, P., Latos-Bielenska, A., Pawelczyk, L., Jaruzelska, J.

“…The highly conserved Pumilio protein plays crucial roles in fertility of many organisms acting as a repressor of translation, and causing infertility when…”
Get full text

Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion by Jaruzelska, Jadwiga, Korcz, Aleksandra, Wojda, Alina, Jedrzejczak, Piotr, Bierla, Joanna, Surmacz, Tatiana, Pawelczyk, Leszek, Page, David C, Kotecki, Maciej

“…[...]a broad spectrum of phenotypes ranging clinically from azoospermia to severe oligospermia and histologically from Sertoli cell only syndrome (SCOS) to…”
Get full text

Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome by Kusz, Kamila, Kotecki, Maciej, Wojda, Alina, Szarras-Czapnik, Maria, Latos-Bielenska, Anna, Warenik-Szymankiewicz, Alina, Ruszczynska-Wolska, Anna, Jaruzelska, Jadwiga

“…46,XX subjects carrying the testis determining SRY gene usually have a completely male phenotype. In this study, five very rare cases of SRY carrying subjects…”
Get full text

Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa by MALASPINA, P., CRUCIANI, F., SANTOLAMAZZA, P., TORRONI, A., PANGRAZIO, A., AKAR, N., BAKALLI, V., BRDICKA, R., JARUZELSKA, J., KOZLOV, A., MALYARCHUK, B., MEHDI, S. Q., MICHALODIMITRAKIS, E., VARESI, L., MEMMI, M. M., VONA, G., VILLEMS, R., PARIK, J., ROMANO, V., STEFAN, M., STENICO, M., TERRENATO, L., NOVELLETTO, A., SCOZZARI, R.

“…We typed 1801 males from 55 locations for the Y-specific binary markers YAP, DYZ3, SRY10831 and the (CA)n microsatellites YCAII and DYS413. Phylogenetic…”
Get full text

An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content by Witt, M, Michalczak, K, Latos-Bielenska, A, Jaruzelska, J, Kuczora, I, Lopez, M

“…The detection of 45,X/46,XY mosaicism in patients with abnormalities of sexual differentiation is of crucial diagnostic importance. Here we present application…”
Get full text

Genetic background of clinical homogeneity of phenylketonuria in Poland by Jaruzelska, J, Matuszak, R, Lyonnet, S, Rey, F, Rey, J, Filipowicz, J, Borski, K, Munnich, A

“…In order to elucidate the clinical homogeneity and severity of the hyperphenylalaninaemias in Poland, a total of 71 children with typical phenylketonuria (PKU)…”
Get full text

Human Pumilio-2 Is Expressed in Embryonic Stem Cells and Germ Cells and Interacts with DAZ (Deleted in AZoospermia) and DAZ-Like Proteins by Moore, Frederick L., Jaruzelska, Jadwiga, Fox, Mark S., Urano, Jun, Firpo, Meri T., Turek, Paul J., Dorfman, David M., Renee A. Reijo Pera

“…Early in development, a part of the embryo is set aside to become the germ cell lineage that will ultimately differentiate to form sperm and eggs and transmit…”
Get full text

The phenylketonuria G272X haplotype 7 mutation in European populations by APOLD, J, EIKEN, H. G, JARUZELSKA, J. M, SVENSSON, E, KUNERT, E, KOZAK, L, CECHAK, P, GÜTTLER, F, GILTAY, J, LICHTER-KONECKI, U, MELLE, D

“…We have compiled data on the frequencies of the phenylketonuria G272X mutation in European populations. This mutation occurs north of the Alps. It has a…”
Get full text

A Region of Human Chromosome 9p Required for Testis Development Contains Two Genes Related to Known Sexual Regulators by Raymond, Christopher S., Parker, Emily D., Kettlewell, Jae R., Brown, Laura G., Page, David C., Kusz, Kamila, Jaruzelska, Jadwiga, Reinberg, Yuri, Flejter, Wendy L., Bardwell, Vivian J., Hirsch, Betsy, Zarkower, David

“…Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal,…”
Get full text

Conservation of a Pumilio-Nanos complex from Drosophila germ plasm to human germ cells by Jaruzelska, Jadwiga, Kotecki, Maciej, Kusz, Kamila, Spik, Anna, Firpo, Meri, Reijo Pera, Renee A

“…Germ cells are the cells which ultimately give rise to mature sperm and eggs. In model organisms such as flies and worms, several genes that are required for…”
Get full text

The SNARE-associated component SNAPIN binds PUMILIO2 and NANOSI proteins in human male germ cells by GINTER-MATUSZEWSKA, B, SPIK, A, REMBISZEWSKA, A, KOYIAS, C, KUPRYJANCZYK, J, JARUZELSKA, J

Get full text

Identification of a novel gene, DZIP ( DAZ-interacting protein), that encodes a protein that interacts with DAZ (deleted in azoospermia) and is expressed in embryonic stem cells and germ cells by Moore, Frederick L, Jaruzelska, Jadwiga, Dorfman, David M, Reijo-Pera, Renee A

“…Evidence from diverse organisms, including humans, suggests that the DAZ ( Deleted in AZoospermia) gene and a closely related homolog, DAZL ( DAZ-like), are…”
Get full text

In situ localization of HLA class I mRNA in human testis by Janitz, M, Fiszer, D, Jaruzelska, J, Simon, A K, Biro, A, Sachs, J A, Kurpisz, M

“…We have used a 0.35-kilobase (kb) antisense RNA probe complementary to the monomorphic regions of both classical and nonclassical HLA class I sequences to…”
Get more information

Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria by Jaruzelska, J, Borski, K, Riess, O, Blin, N, Słomski, R

“…Eight polymorphic restriction enzyme sites at phenylalanine hydroxylase locus from the parental chromosomes in Polish families with phenylketonuria were…”
Get full text

Human Y-chromosome variation in the western Mediterranean area: implications for the peopling of the region by Scozzari, R, Cruciani, F, Pangrazio, A, Santolamazza, P, Vona, G, Moral, P, Latini, V, Varesi, L, Memmi, M M, Romano, V, De Leo, G, Gennarelli, M, Jaruzelska, J, Villems, R, Parik, J, Macaulay, V, Torroni, A

“…Y-chromosome variation was analyzed in a sample of 1127 males from the Western Mediterranean area by surveying 16 biallelic and 4 multiallelic sites. Some…”
Get full text