What do we learn from the murine Jacob/Nsmf gene knockout for human disease?

Christina SpilkerRG Neuroplasticity, Leibniz-Institute for Neurobiology, Magdeburg, Germany

Katarzyna M. GrochowskaRG Neuroplasticity, Leibniz-Institute for Neurobiology, Magdeburg, Germany

Michael R. KreutzRG Neuroplasticity, Leibniz-Institute for Neurobiology, Magdeburg, Germany;Leibniz Group “Dendritic Organelles and Synaptic Function”, Hamburg, GermanyCorrespondence[email protected]

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Katarzyna M. Grochowska, Julia Bär, Guilherme M. Gomes, Michael R. Kreutz & Anna Karpova. (2021) Jacob, a Synapto-Nuclear Protein Messenger Linking N-methyl-D-aspartate Receptor Activation to Nuclear Gene Expression. Frontiers in Synaptic Neuroscience 13.
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Henriett Butz, Gábor Nyírő, Petra Anna Kurucz, István Likó & Attila Patócs. (2020) Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice. Human Genetics 140:1, pages 113-134.
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Biagio Cangiano, Du Soon Swee, Richard Quinton & Marco Bonomi. (2020) Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease. Human Genetics 140:1, pages 77-111.
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Yakov A. Tsepilov, Maxim B. Freidin, Alexandra S. Shadrina, Sodbo Z. Sharapov, Elizaveta E. Elgaeva, Jan van Zundert, Lennart С. Karssen, Pradeep Suri, Frances M. K. Williams & Yurii S. Aulchenko. (2020) Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain conditions. Communications Biology 3:1.
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Hyun-Ju Cho, Yufei Shan, Niteace C. Whittington & Susan Wray. (2019) Nasal Placode Development, GnRH Neuronal Migration and Kallmann Syndrome. Frontiers in Cell and Developmental Biology 7.
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Selma Feldman Witchel & A. Kemal Topaloglu. 2019. Yen and Jaffe's Reproductive Endocrinology. Yen and Jaffe's Reproductive Endocrinology 394 446.e16 .

Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jérôme Bouligand & Jacques Young. (2018) GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. European Journal of Endocrinology, pages R55-R80.
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What do we learn from the murine Jacob/Nsmf gene knockout for human disease?

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What do we learn from the murine Jacob/Nsmf gene knockout for human disease?

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