المؤلفون: Clorissa L. Washington-Hughes (14375205), Shubhrajit Roy (14213114), Herana Kamal Seneviratne (8502042), Senthilkumar S. Karuppagounder (8656866), Yulemni Morel (14375208), Jace W. Jones (750609), Alex Zak (14375211), Tong Xiao (12431), Tatiana N. Boronina (14375214), Robert N. Cole (82811), Namandjé N. Bumpus (5089418), Christopher J. Chang (151940), Ted M. Dawson (139536), Svetlana Lutsenko (156211)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Developmental Biology, Biological Sciences not elsewhere classified, +copper%22">xlink "> copper, menkes disease protein, chpl &# 8217, despite normal expression, atp7b causes reorganization, significant cu deficit, limits cu transport, chpl lacking atp7b, postnatal development atp7b, identify metabolic changes, metabolic changes, chpl ), normal morphology, notable changes, brain development, cu deficiency, activates cu, results identify, remains intracellular, phosphatidylethanolamine conversion, older animals

العلاقة: https://figshare.com/articles/journal_contribution/_top_two_panels_Representative_average_full_scan_mass_spectra_of_derivatized_DA_and_NE_in_brain_tissue_exhibiting_the_detection_of_their_ions_at_m_z_258_1485_and_274_1435_respectively_/21861186Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1010558.s006Test

المؤلفون: Clorissa L. Washington-Hughes (14375205), Shubhrajit Roy (14213114), Herana Kamal Seneviratne (8502042), Senthilkumar S. Karuppagounder (8656866), Yulemni Morel (14375208), Jace W. Jones (750609), Alex Zak (14375211), Tong Xiao (12431), Tatiana N. Boronina (14375214), Robert N. Cole (82811), Namandjé N. Bumpus (5089418), Christopher J. Chang (151940), Ted M. Dawson (139536), Svetlana Lutsenko (156211)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Developmental Biology, Biological Sciences not elsewhere classified, +copper%22">xlink "> copper, menkes disease protein, chpl &# 8217, despite normal expression, atp7b causes reorganization, significant cu deficit, limits cu transport, chpl lacking atp7b, postnatal development atp7b, identify metabolic changes, metabolic changes, chpl ), normal morphology, notable changes, brain development, cu deficiency, activates cu, results identify, remains intracellular, phosphatidylethanolamine conversion, older animals

العلاقة: https://figshare.com/articles/journal_contribution/Quantification_of_DBH-positive_cell_located_at_both_sides_of_the_fourth_ventricle_in_4-weeks-old_control_C57Bl_6_mice_/21861180Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1010558.s004Test

المؤلفون: Clorissa L. Washington-Hughes (14375205), Shubhrajit Roy (14213114), Herana Kamal Seneviratne (8502042), Senthilkumar S. Karuppagounder (8656866), Yulemni Morel (14375208), Jace W. Jones (750609), Alex Zak (14375211), Tong Xiao (12431), Tatiana N. Boronina (14375214), Robert N. Cole (82811), Namandjé N. Bumpus (5089418), Christopher J. Chang (151940), Ted M. Dawson (139536), Svetlana Lutsenko (156211)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Developmental Biology, Biological Sciences not elsewhere classified, +copper%22">xlink "> copper, menkes disease protein, chpl &# 8217, despite normal expression, atp7b causes reorganization, significant cu deficit, limits cu transport, chpl lacking atp7b, postnatal development atp7b, identify metabolic changes, metabolic changes, chpl ), normal morphology, notable changes, brain development, cu deficiency, activates cu, results identify, remains intracellular, phosphatidylethanolamine conversion, older animals

العلاقة: https://figshare.com/articles/journal_contribution/_extended_Fig_4C_/21861177Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1010558.s003Test

المؤلفون: Clorissa L. Washington-Hughes (14375205), Shubhrajit Roy (14213114), Herana Kamal Seneviratne (8502042), Senthilkumar S. Karuppagounder (8656866), Yulemni Morel (14375208), Jace W. Jones (750609), Alex Zak (14375211), Tong Xiao (12431), Tatiana N. Boronina (14375214), Robert N. Cole (82811), Namandjé N. Bumpus (5089418), Christopher J. Chang (151940), Ted M. Dawson (139536), Svetlana Lutsenko (156211)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Developmental Biology, Biological Sciences not elsewhere classified, +copper%22">xlink "> copper, menkes disease protein, chpl &# 8217, despite normal expression, atp7b causes reorganization, significant cu deficit, limits cu transport, chpl lacking atp7b, postnatal development atp7b, identify metabolic changes, metabolic changes, chpl ), normal morphology, notable changes, brain development, cu deficiency, activates cu, results identify, remains intracellular, phosphatidylethanolamine conversion, older animals

العلاقة: https://figshare.com/articles/journal_contribution/Significant_changes_in_protein_abundances_in_Atp7b-_-_ChPl_compared_to_control_p-value_0_1_/21861195Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1010558.s009Test

المؤلفون: Clorissa L. Washington-Hughes (14375205), Shubhrajit Roy (14213114), Herana Kamal Seneviratne (8502042), Senthilkumar S. Karuppagounder (8656866), Yulemni Morel (14375208), Jace W. Jones (750609), Alex Zak (14375211), Tong Xiao (12431), Tatiana N. Boronina (14375214), Robert N. Cole (82811), Namandjé N. Bumpus (5089418), Christopher J. Chang (151940), Ted M. Dawson (139536), Svetlana Lutsenko (156211)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Developmental Biology, Biological Sciences not elsewhere classified, +copper%22">xlink "> copper, menkes disease protein, chpl &# 8217, despite normal expression, atp7b causes reorganization, significant cu deficit, limits cu transport, chpl lacking atp7b, postnatal development atp7b, identify metabolic changes, metabolic changes, chpl ), normal morphology, notable changes, brain development, cu deficiency, activates cu, results identify, remains intracellular, phosphatidylethanolamine conversion, older animals

العلاقة: https://figshare.com/articles/journal_contribution/Expression_of_Atp7a_and_Atp7b_red_in_DBH_positive_cells_green_of_locus_coeruleus_at_4_weeks_and_20_weeks_after_birth_/21861183Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1010558.s005Test

المؤلفون: Clorissa L. Washington-Hughes (14375205), Shubhrajit Roy (14213114), Herana Kamal Seneviratne (8502042), Senthilkumar S. Karuppagounder (8656866), Yulemni Morel (14375208), Jace W. Jones (750609), Alex Zak (14375211), Tong Xiao (12431), Tatiana N. Boronina (14375214), Robert N. Cole (82811), Namandjé N. Bumpus (5089418), Christopher J. Chang (151940), Ted M. Dawson (139536), Svetlana Lutsenko (156211)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Developmental Biology, Biological Sciences not elsewhere classified, +copper%22">xlink "> copper, menkes disease protein, chpl &# 8217, despite normal expression, atp7b causes reorganization, significant cu deficit, limits cu transport, chpl lacking atp7b, postnatal development atp7b, identify metabolic changes, metabolic changes, chpl ), normal morphology, notable changes, brain development, cu deficiency, activates cu, results identify, remains intracellular, phosphatidylethanolamine conversion, older animals

العلاقة: https://figshare.com/articles/journal_contribution/Analysis_of_dopamine_degradation_products_in_striatum_Str_and_substantia_nigra_SNc_in_males_and_females_/21861189Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1010558.s007Test

المؤلفون: Clorissa L. Washington-Hughes (14375205), Shubhrajit Roy (14213114), Herana Kamal Seneviratne (8502042), Senthilkumar S. Karuppagounder (8656866), Yulemni Morel (14375208), Jace W. Jones (750609), Alex Zak (14375211), Tong Xiao (12431), Tatiana N. Boronina (14375214), Robert N. Cole (82811), Namandjé N. Bumpus (5089418), Christopher J. Chang (151940), Ted M. Dawson (139536), Svetlana Lutsenko (156211)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Developmental Biology, Biological Sciences not elsewhere classified, +copper%22">xlink "> copper, menkes disease protein, chpl &# 8217, despite normal expression, atp7b causes reorganization, significant cu deficit, limits cu transport, chpl lacking atp7b, postnatal development atp7b, identify metabolic changes, metabolic changes, chpl ), normal morphology, notable changes, brain development, cu deficiency, activates cu, results identify, remains intracellular, phosphatidylethanolamine conversion, older animals

العلاقة: https://figshare.com/articles/journal_contribution/Supplemental_methods_and_reference_/21861192Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1010558.s008Test

المؤلفون: Anna Rozensztrauch, Izabela Dzien, Robert Śmigiel

المصدر: Journal of Clinical Medicine; Volume 12; Issue 5; Pages: 1769

مصطلحات موضوعية: Menkes disease, quality of life, family impact, rare disease

وصف الملف: application/pdf

العلاقة: Epidemiology & Public Health; https://dx.doi.org/10.3390/jcm12051769Test

الإتاحة: https://doi.org/10.3390/jcm12051769Test

المؤلفون: Gerdes, A. M.A., Møller, L. Birk, Horn, N.

المصدر: Gerdes , A M A , Møller , L B & Horn , N 2023 , ' Ethics in pre-ART genetics : a missed X-linked Menkes disease case ' , Journal of Assisted Reproduction and Genetics , vol. 40 , no. 4 , pp. 811-816 . https://doi.org/10.1007/s10815-023-02778-zTest

مصطلحات موضوعية: Assisted reproductive technologies (ART), ATP7A, Igenomix, Menkes disease, Preconception screening, Variant evaluation

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1007/s10815-023-02778-zTest
https://curis.ku.dk/portal/da/publications/ethics-in-preart-geneticsTest(f66e2bd0-bb49-4417-8515-d1d971a1747e).html
https://curis.ku.dk/ws/files/369084652/s10815_023_02778_z.pdfTest

المؤلفون: Nikhil Vikas Pawar, Fatima Farid Mir

المصدر: Dubai Medical Journal, Pp 1-4 (2022)

مصطلحات موضوعية: menkes disease, copper storage disease, Medicine

وصف الملف: electronic resource

العلاقة: https://www.karger.com/Article/FullText/521155Test; https://doaj.org/toc/2571-726XTest

الوصول الحر: https://doaj.org/article/15dc13c670ab42ce8b2233aa7523b365Test