Zobrazeno 1 - 10
of 248
pro vyhledávání: '"Eva M. Eicher"'
Autor:
Naoe Harafuji, Ravindra Boddu, Maryanne C. Odinakachukwu, Oded Foreman, Eva M. Eicher, Chaozhe Yang, Lisa M. Guay-Woodford, Ljubica Caldovic, Heather Gordish-Dressman
Autosomal recessive polycystic kidney disease (ARPKD) is a hereditary hepato-renal fibrocystic disorder and a significant genetic cause of childhood morbidity and mortality. Mutations in the Polycystic Kidney and Hepatic Disease 1 (PKHD1) gene cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8ca859568c23a6f4a2f39fb7c536464
https://doi.org/10.1101/2021.09.22.461297
https://doi.org/10.1101/2021.09.22.461297
Autor:
Stephanie M Correa, Linda L Washburn, Ravi S Kahlon, Michelle C Musson, Gerrit J Bouma, Eva M Eicher, Kenneth H Albrecht
Publikováno v:
PLoS Genetics, Vol 8, Iss 4, p e1002569 (2012)
Sex reversal can occur in XY humans with only a single functional WT1 or SF1 allele or a duplication of the chromosome region containing WNT4. In contrast, XY mice with only a single functional Wt1, Sf1, or Wnt4 allele, or mice that over-express Wnt4
Externí odkaz:
https://doaj.org/article/4975f51187b54dfdb80f866ad4ac762e
Autor:
Agnes To, Richard T. Swank, Michael E. Rusiniak, Margaret S. Robinson, Albert B. Seymour, Lijun Feng, Edward K. Novak, Eva M. Eicher, Lijie Zhen, Shelley Jiang, Andrew A. Peden, Michael B. Gorin
Publikováno v:
Human Molecular Genetics. 8:323-330
1999 Oxford University Press Human Molecular Genetics, 1999, Vol. 8, No. 2 The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky–Pudlak syndrome and night blindnes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f62fe02f9d00d59e058335c4b8f3feb
https://doi.org/10.1093/hmg/8.2.323
https://doi.org/10.1093/hmg/8.2.323
Publikováno v:
Biology of Reproduction. 82:380-389
Mammalian gonadal sex-determining (GSD) genes are expressed in a unique population of somatic cells that differentiate into granulosa cells in XX gonads or Sertoli cells in XY gonads. The ability to efficiently isolate these somatic support cells (SS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::805f0c5dca7f0fea1cfe31982b3834e0
https://doi.org/10.1095/biolreprod.109.079822
https://doi.org/10.1095/biolreprod.109.079822
Publikováno v:
Mechanisms of Development. 126(5-6):324-336
Ovotestis development in B6-XY(POS) mice provides a rare opportunity to study the interaction of the testis- and ovary-determining pathways in the same tissue. We studied expression of several markers of mouse fetal testis (SRY, SOX9) or ovary (FOXL2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b921413a7fc797df089d503671a056
Publikováno v:
Pigment Cell Research. 3:271-274
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4e97a367e3123db9b565b22e2dc0f04
https://doi.org/10.1111/j.1600-0749.1990.tb00384.x
https://doi.org/10.1111/j.1600-0749.1990.tb00384.x
Autor:
Linda L. Washburn, Kenneth H. Albrecht, Eva M. Eicher, Gary A. Churchill, Andrew K. Recknagel, Gerrit J. Bouma
Publikováno v:
Development. 132:3045-3054
The nuclear receptor transcription factor Dax1 is hypothesized to play a role in testicular development, although the mechanism of its action is unknown. Here, we present evidence that Dax1 plays an early essential role in fetal testis development. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dc2d13abb161d4f4f90c3db7410ba26
https://doi.org/10.1242/dev.01890
https://doi.org/10.1242/dev.01890
Publikováno v:
Genetics. 164:277-288
Transfer of certain Mus domesticus-derived Y chromosomes (SryDOM alleles, e.g., SryPOS and SryAKR) onto the C57BL/6J (B6) mouse strain causes abnormal gonad development due to an aberrant interaction between the SryDOM allele and the B6-derived autos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c8b1691b0e1033ef8f958cdfbe85a5
https://doi.org/10.1093/genetics/164.1.277
https://doi.org/10.1093/genetics/164.1.277
Autor:
Linda L. Washburn, Eva M. Eicher
Publikováno v:
Journal of Experimental Zoology. 290:322-326
Two studies were conducted to further our understanding of the inherited condition in mice known as C57BL/6J-YPOS (B6-YPOS) sex reversal. One study determined what proportion of B6 XYPOS mice develop as females or hermaphrodites. We found that 75% de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::678eb966c47710338b43ba59c597f82e
https://doi.org/10.1002/jez.1072
https://doi.org/10.1002/jez.1072
Autor:
Linda L. Washburn, Richard T. Swank, Luanne L. Peters, Juan S. Bonifacino, Richard S. Smith, Susan J. Hunter, Esteban C. Dell'Angelica, Steven L. Ciciotte, Sabra G. Andersen, Babette Gwynn, Eva M. Eicher
Publikováno v:
Blood. 96:4227-4235
Defects in a triad of organelles (melanosomes, platelet granules, and lysosomes) result in albinism, prolonged bleeding, and lysosome abnormalities in Hermansky-Pudlak syndrome (HPS). Defects in HPS1, a protein of unknown function, and in components
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18a8b52d2106d358e74c55b6e74d7fe2
https://doi.org/10.1182/blood.v96.13.4227
https://doi.org/10.1182/blood.v96.13.4227