Record W2475552772 · doi:10.1186/s12864-016-2858-0

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

2016· article· en· W2475552772 on OpenAlexaff

Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Nobutaka Hirokawa, Maryam Goudarzi, Albert J. Fornace, Saleh Baeesa, Deema Hussain, Fahad Alghamdi, Hans-Juergen Schulten, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder Singh Saini, Awatif Jamal, Mohammed Al‐Qahtani, Ghazi Damanhouri, Heba Alkhatabi, Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp, Jim Vaught, Bruce Budowle, Abdelbaset Buhmeida, Leena Merdad, Sudhir Kumar, Sayaka Miura, Karen Gomez, Elham Alhathli, Nada Salem, H. M. Faheem, Ashok Agarwa, Eberhard Nieschlag, Joachim Wistuba, Oliver Damm, Taha Abo-Almagd Abdel-Meguid Hamoda, Hisham A. Mosli, Osama S. Bajouh, Serdar Coşkun, Ashraf Dallol, Wejdan Al-Qahtani, Asia Al-Harbi, Burak Özkösem, Rick DuBois, Maryam T. Dandana, Wassim Y. Almawi, S. Abdalla, M. Nabil Al-Aama, Asmaa Elzawahry, Tsuyoshi Takahashi, Sachiyo Mimaki, Eisaku Furukawa, Rie Nakatsuka, Isao Kurosaka, Takahiko Nishigaki, Hiromi Nakamura, Satoshi Serada, Tetsuji Naka, Seiichi Hirota, Tatsuhiro Shibata, Katsuya Tsuchihara, Toshirou Nishida, Mamoru Kato, Sajid Mehmood, Naeem Mahmood Ashraf, Awais Asif, Muhammad Bilal, Malik Siddique Mehmood, Aadil Hussain, Qazi Mohammad Sajid Jamal, Mughees Uddin Siddiqui, Mohammad A. Alzohairy, Mohammad A. Al Karaawi, Taoufik Nedjadi, Heba Al-Khattabi, Ahmed Al-Sayyad, Mohammed Al-Qahtani, Hédia Zitouni, Nozha Raguema, Marwa Ben Ali, Wided Malah, Raja Lfalah, Touhami Mahjoub, Mohammed Elanbari, Andrey Ptitsyn, Sana Mahjoub, Rabeb El Ghali, Béchir Achour, Nidhal Ben Amor, B Nsiri, Hamid Morjani, Esam I. Azhar, Vera Chayeb, Maryam Dendena, Khedija Zouari-Limayem, Bassem Refaat, Ahmad Mohammad Ashshi, Sarah Abdullah Batwa, Hazem Ramadan, Amal Awad, Ahmed Ateya, Adel Galal El-Shemi, Mohammad A. BaSalamah, Youjin Na, Chae‐Ok Yun, Osama A. Kensara, A. M. ABDEL‐FATTAH, Batol Imran Dheeb, Mohammed M. F. Al-Halbosiy, Rghad Kadhim Al lihabi, Basim Mohammed Khashman, Djouhri Laiche, Chaudhary Adeel, Hani Al-Afghani, Maria Łastowska, Haya H. Al‐Balool, Harsh Sheth, Emma Mercer, Jonathan Coxhead, Christopher P.F. Redfern, Heiko Peters, Alastair D. Burt, Mauro Santibanez‐Koref, Chris M. Bacon, Louis Chesler, Alistair G. Rust, David J. Adams, Daniel Williamson, Steven C. Clifford, Michael S. Jackson, Mala Singh, Mohmmad Shoab Mansuri, Shahnawaz D. Jadeja, Hima Patel, Yogesh Marfatia, Rasheedunnisa Begum, Amal M. Mohamed, Alaa K. Kamel, Nivin A. Helmy, Sayda A. Hammad, Hesham F. Kayed, Marwa Shehab, Assad El Gerzawy, Maha M. Ead, Ola M. Ead, Mona K. Mekkawy, Innas Mazen, Mona El‐Ruby, Sara Shahid, Jamal M. Arif, Mohtashim Lohani, Imen Moumni, Leila Chaouch, Houyem Ouragini, Kaïs Douzi, Chaouachi Dorra Mellouli Fethi, Bejaoui Mohamed, Salem Abbes, Areeg Faggad, Amanuel Tsegai Gebreslasie, Hani Y. Zaki, Badreldin Elsonni Abdalla, Maha S. Al-Shammari, Rhaya Al-Ali, Nader Mousa Rubayyi Albalawi, Mansour S. Al-Enazi, Ali A. Al-Muraikhi, Fadi Busaleh, Ali S. Al-Sahwan, J. Francis Borgio, Amein K. Al‐Ali, Sadananda Acharya, Maha S. Zaki, Hala T. El‐Bassyouni, Mohamed F. Elshal, Kaleemuddin Mohammed, Alia Aldahlawi, Omar I. Saadah, J. Philip McCoy, Adel E. El-Tarras, Nabil S. Awad, Abdulla A. Alharthi, Mohamed M. M. Ibrahim, Haneen Alsehli, Abdullah Gari, Roaa Kadam, Mazen M. Gari, Mohmmed H. Alkaff, Adel Abuzenadah, Mamdooh Gari, Fatima A. Moradi, Omran M. Rashidi, Zuhier Awan, Ibrahim H. Kaya, Olfat Al‐Harazi, Dilek Çolak, Nabila A. Alkousi, Takis Athanasopoulos, Afnan Omar Bahmaid, Etimad A. Alhwait, Mohammed Abbas, Salma N. Alsayed, Fawziah H. Aljohani, Samaher M. Habeeb, Rawan A. Almashali, Sulman Basit, Samia M. Ahmed, Rakesh Sharma, Ashok Agarwal, Luna Samanta, Muhammad Abu-Elmagd, Edmund S. Sabanegh, Zhihong Cui, Alaa A. Al-boogmi, Nuha A. Alansari, Maha M. Al-Quaiti, Fai T. Ashgan, Hasan Salleh Jamal, Abdullraheem Rozi, Zeenat Mirza, Ahmad J. Al Sayyad, Jaudah Al‐Maghrabi, Alaa Alahmadi, Rasha A. Ebiya, Samia M. Darwish, Metwally M. Montaser, Heba Abusamra, Vladimir B. Bajić, Wafaey Gomaa, Mehenaz Hanbazazh, Mahmoud Al-Ahwal, Saher Hakamy, Ghali Baba, Abdullah Abdulkarim Ali Al-Harbi, Ghalia Baba, Hend Nour Eldin, Aisha Alyamani, Mohammed H. Alkaf, Rawan Gadi, Saadiah M. Alfakeeh, Ghazala Rubi, M. Haroon Hamed, Ishtiaq Qadri, Manal Shaabad, Shilu Mathew, Shireen Hussain, Mikhlid H. Almutairi, Angie Ambers, Jennifer D. Churchill, Jonathan L. King, Monika Stoljarova, Harrell Gill-King, Muhammad Al-Qatani, Taha Abo Almagd, Muhammad Hussain Al-Qahtani, Abdelbaset Buhmaida, Afnan Bandah, Rukhsana Satar, Mahmood Rasool, Nazia Nazam, Mohamad I. Lone, Syed Kashif Zaidi, Peter Natesan Pushparaj, Hanan Bashier, Abrar Al Qahtani, Amal M. Nour, Adel M. Abu Zenadah, Muhammed Al Qahtani, Muhammad Faheem, Shiny Mathew, Hani A. Alhadrami, Ibtessam R. Hussein, Rima S. Bader, Randa Bassiouni, Mohamed N. Alama, Mohammad H. Al Qahtani, Nazia Nizam, Shakeel Ahmed Ansari, Muhammed Al-Qahtani, Eradah Alshihri, Lina Alharbi, Peter Pushparaj Natesan, Fazal Khan, Khalid Sait, Nisreen Anfinan, Lobna S. Mira, Adeel Chaudhary, Sameera Sogaty, Mohammad Sarwar Jamal, Abdulrahman M. S. Sibiani, Mohammad Jafri, Muhammad I. Naseer, Mohammed Al-Qahtani, Kundan Kumar, Ahmad Abu Turab Naqvi, Faizan Ahmad, Md. Imtaiyaz Hassan, Jummanah Jarullah, Abdelbasit Buhmeida, Shahida Khan, Ghufrana Abdussami, Maryam Mahfooz, Mohammad Amjad Kamal, Mohammad S. S. Jarullah, Muhammad Abu‐Elmagd, Abdulah E. A. Mathkoor, Hashim M. A. Alsalmi, Anas M. M. Oun, Ghazi A. Damanhauri, Yousif Ahmed Abutalib, Daniele Merico, Susan Walker, Christian R. Marshall, Mehdi Zarrei, Stephen W. Scherer, Mohammad H. Al-Qahtani, Mohammed M. Jan, Maryam H. Al-Zahrani, Sahira Lary, Emmanuel Dermitzakis, Abeer Ahmed ALrefai, Mona Saleh, Rehab I. Yassien, Mahmmoud Kamel, Rabab M. Habeb, Najlaa Filimban, Nadia Ghannam, Fehmida Bibi, Sana Akhtar, Muhammad Yasir, Muhammad I. Nasser, Asif A. Jiman-Fatani, Ali Sawan, Ruaa A. Lahzah, Asho Ali, Seyed E. Hasnain, Iftikhar Aslam Tayubi, Hamza A. S. Abujabal, Alaa O. Magrabi, Adel Abuzenada, Taha A. Kumosani, Elie K. Barbour, Manal Shabaad, Adnan Merdad, Kalamegam Gauthaman, Hani Moaiteq Aljahdali, Reham Al Nono, Mohammed Sarwar Jamal, Mansour A. Alghamdi, Magdy Shamy, Max Costa, Mamdouh I. Khoder, Najla Kharrat, Sabrine Belmabrouk, Rania Abdelhédi, Riadh Benmarzoug, Ahmed Rebaï, Ghazi Dhamanhouri, Abdelwahab Noorwali, Afnan Bahamaid, Ali Mobasheri, Muhammad Faheem, Raziuddin Khan, Kanchan Bhatia, Iftikhar AslamTayubi, Manish Tripathi, Syed Asif Hassan, Rahul Shrivastava, Syed Shah Hassan, Ishani Shah, Ishfaq A. Sheikh, Ejaz Ahmad, Mohd Rehan, Samera F. AlBasri, Rola Turki, Ghazi A. Damanhouri, M.A. Beg, Sahar AF. Hammoudah, Khalid M. Al-Harbi, Lama M. El-Attar, Ahmed M. Z. Darwish, Sara M. Ibrahim, Hani Choudhry, Jalaludden Awlia, Farid Ahmed, Imran khan, Sameera F.M. AlBasri, Heba M. EL Sayed, Eman Abdel Razek Hafez, Aisha Elaimi, Mohammad Khalid Alwasiyah, Richard F. Wintle, Vikram Gopalakrishna Pillai, Sujata Sharma, Punit Kaur, Alagiri Srinivasan, T.P. Singh, Reem Alotibi, Deema Hussein, Mona Al‐Sharif, Mohammed Bangash, Taha Kumosani, Faisal A. Al-Allaf, Zainularifeen Abduljaleel, Abdullah Al‐Ashwal, Mohiuddin M. Taher, Abdellatif Bouazzaoui, Halah Abalkhail, Faisal A. Ba-Hammam, Mohammad Athar, Khalid HussainWali Sait, Naira Ben Mami, Yosr Z. Haffani, M Medhioub, Lamine Hamzaoui, Ameur Cherif, Msadok Azouz, Mohammed Nasser, Shereen A. Turkistany, Jamal S. M. Sabir, Basmah Al-Madoudi, Bayan Al-Aslani, Khawlah Alharbi, Rwan Al-Jahdali, Hanadi Qudaih, Emad Al Hamzy, Asad Muhammad Ilyas, Youssri Ahmed, Mohammed Hussein Al-Qahtani, Alaa Alamandi, Ohoud Subhi, Adel Al-Johari, Osman Abdel Al-Hamour, Hosam Al-Aradati, Abdulmonem Almutawa, Faisal Al-Mashat, Sajjad Karim, Mohammad Al-Qahtani, Muhammad Waseem Shah, Saad Al-Masoodi, Emna Khamla, Chaima Jlassi, Ahmed S. Masmoudi, Lassaâd Belbahri, Shadi Alkhayyat, Roba Attas, Atlal Abusanad, Mohammed F. Abuzinadah, Habib Bouazzi, Carlos Trujillo, Maha Alotaibi, Rami Nassir, Essam H. Jiffri, Ghulam Md Ashraf, Mohammad Azhar Aziz, Rizwan Ali, N Samman, Sathish Periyasamy, Mohammed Aldress, Majed Al Otaibi, Zeyad Al Yousef, Mohamed Boudjelal, Ibrahim AlAbdulkarim, Mohd Suhail, Abid Qureshi, Adil Jamal, Mahmoud Zaki El-Readi, Safaa Yehia Eid, Michaël Wink, Ahmed M. Isa, Lulu Al‐Nuaim, Johara Al-Mutawa, Basim Abu-Rafae, Saleh AlAsiri, Saleh Binsaleh, Waseem Ahmad, Mohamed H. Alqahtani

Bibliographic record

VenueBMC Genomics · 2016

Typearticle

Languageen

FieldBiochemistry, Genetics and Molecular Biology

TopicEpigenetics and DNA Methylation

Canadian institutionsUniversity of TorontoSickKids FoundationHospital for Sick Children

FundersNational Plan for Science, Technology and InnovationMedical Research CouncilAll-India Institute of Medical SciencesKing Abdulaziz City for Science and TechnologyInstitut Pasteur de TunisKing Abdulaziz UniversityIndian Council of Medical Research

KeywordsBiologyGeneticsLibrary scienceBioinformatics

DOI10.1186/s12864-016-2858-0

Abstract

fetched live from OpenAlex

Kinesin super family protein 2A (KIF2A) is an ATP-dependent microtubule destabilizer, that belongs to the kinesin-13 family. It is highly expressed in juvenile brains, but its postnatal function has not been determined due to mortality in KIF2A-deficient mice. In addition, KIF2A is a causal gene in human Malformation of Cortical Development (MCD) with epilepsy, but the contribution of KIF2A to its pathogenesis is not yet understood due to the small number of human patients. In this study, we first analyzed the prenatal function of KIF2A using kif2a-KO mice. These mice were pale, breathed irregularly, and exhibited frequent twitching in addition to malformations resembling those in kif2a-mutated human patients. To determine the post-migration function of KIF2A, we generated newly tamoxifen-inducible conditional knockout mice. Despite successful neuronal migration, all offspring displayed hyper-activity, weight loss, severe cortical/hippocampal-focus epilepsy, and died. Interestingly, KIF2A was highly expressed in excitatory axons, in cortical neurites in layers II/III/V and in dentate mossy fibers (MF). In the cortex, the loss of KIF2A generated aberrant axon sprouting in those layers. In the hippocampus, the loss of KIF2A resulted in the development of hippocampal sclerosis, MF sprouting, and recurrent excitatory circuits resembling but different from TLE. These phenotypes developed without excitation. cKO granule cells exhibited failed axon/dendrite determination, and developed multiple short axons throughout the entire molecular layer. These results suggest that KIF2A is crucial postnatally for establishing accurate neuronal circuits, in addition to its role in prenatal cell survival, migration, and axon elongation.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000

metaresearch head score (Gemma)0.000

Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated

Candidate categoriesnone

Consensus categoriesnone

DomainCandidate signal: none · Consensus signal: none

Study designCandidate signal: Bench or experimental · Consensus signal: none

GenreCandidate signal: Empirical · Consensus signal: Empirical

Teacher disagreement score0.586

Threshold uncertainty score0.322

Codex and Gemma teacher scores by category

Category	Codex	Gemma
Metaresearch	0.000	0.000
Meta-epidemiology (narrow)	0.000	0.000
Meta-epidemiology (broad)	0.000	0.000
Bibliometrics	0.000	0.000
Science and technology studies	0.000	0.000
Scholarly communication	0.000	0.000
Open science	0.000	0.000
Research integrity	0.000	0.000
Insufficient payload (model declined to judge)	0.000	0.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.029

GPT teacher head0.274

Teacher spread0.246 · how far apart the two teachers sit on this one work

Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.

Study designBench or experimental

Domainnot available

GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

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Citations28

Published2016

Admission routes1

Has abstractyes

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