Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alexandra E. Kulle"'
Autor:
Johannes Lorenz, Clara Eisenhardt, Teresa Mittermair, Alexandra E. Kulle, Paul Martin Holterhus, Manfred Fobker, Wolfgang Boenigk, Verena Nordhoff, Hermann M. Behre, Timo Strünker, Christoph Brenker
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
To locate and fertilize the egg, sperm probe the varying microenvironment prevailing at different stages during their journey across the female genital tract. To this end, they are equipped with a unique repertoire of mostly sperm-specific proteins.
Externí odkaz:
https://doaj.org/article/cc8187186afb40fb821db645251b8538
Autor:
Janice K. Jeschke, Cristina Biagioni, Tobias Schierling, Isabel Viola Wagner, Frederik Börgel, Dirk Schepmann, Andreas Schüring, Alexandra E. Kulle, Paul Martin Holterhus, Michael von Wolff, Bernhard Wünsch, Verena Nordhoff, Timo Strünker, Christoph Brenker
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
The sperm-specific Ca2+ channel CatSper registers chemical cues that assist human sperm to fertilize the egg. Prime examples are progesterone and prostaglandin E1 that activate CatSper without involving classical nuclear and G protein-coupled recepto
Externí odkaz:
https://doaj.org/article/e93831ba22cc4ad688b87043d05ff3c8
Autor:
Nadine C Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra E Kulle, Hans-Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audi, Reiner Siebert, Ole Ammerpohl, Paul-Martin Holterhus
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0154158 (2016)
A subset of patients with monogenic disorders lacks disease causing mutations in the protein coding region of the corresponding gene. Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity
Externí odkaz:
https://doaj.org/article/7ecb7fae1043403e9ed324ea4e8a3f14
Autor:
Daw-Yang Hwang, Chi-Chih Hung, Felix G Riepe, Richard J Auchus, Alexandra E Kulle, Paul-Martin Holterhus, Mei-Chyn Chao, Mei-Chuan Kuo, Shang-Jyh Hwang, Hung-Chun Chen
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e25492 (2011)
17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenital adrenal hyperplasia and a rare cause of hypertension with hypokalemia. The CYP17A1 gene mutation leads to 17OHD and its clinical features. We descri
Externí odkaz:
https://doaj.org/article/2cb7c15713554a9e82359b0029553830
Autor:
Mona, Ellaithi, Ralf, Werner, Felix G, Riepe, Nils, Krone, Alexandra E, Kulle, Tayseer, Diab, Alaa K, Kamel, Wiebke, Arlt, Paul-Martin, Holterhus, Omyma, Sabir, Olaf, Hiort
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 8(4)
In this study, we present a Sudanese 46,XY patient raised as a female and diagnosed at the age of 20 years with having 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency. She presented with primary amenorrhea, undeveloped breasts and a m
17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene
Autor:
Christina, Petri, Stefan A, Wudy, Felix G, Riepe, Paul-Martin, Holterhus, Jens, Siegel, Michaela F, Hartmann, Alexandra E, Kulle, Maik, Welzel, Joachim, Grötzinger, Ralf L, Schild, Sabine, Heger
Publikováno v:
Hormone research in paediatrics. 81(5)
Mutations of the CYP17A1 gene cause 17α-hydroxylase deficiency (17OHD) resulting in 46,XY disorder of sex development, hypertension, hypokalemia and absent pubertal development. It is a rare, autosomal recessive form of congenital adrenal hyperplasi