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Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report 致病性纯合PLCZ1突变导致精子蛋白水平降低并模拟PIP2结合减少:病例报告 Kashir, Junaid; Maddirevula, Sateesh; Aldeery, Meshael; Elbait, Gihan Daw; Ramzan, Khushnooda; Mistry, Bhavesh, V; Qubbaj, Wafa; Nomikos, Michail; Hamdan, Hamdan; Alhassan, Saad; Assiri, Abdullah M.; Coskun, Serdar 分享 收藏
The mammalian sperm factor phospholipase C zeta is critical for early embryo division and pregnancy in humans and mice Kashir, Junaid; Mistry, Bhavesh, V; Rajab, Mohamed A.; Busaleh, Lujain; Abu-Dawud, Raed; Ahmed, Hala A.; Alharbi, Sarah; Nomikos, Michail; Alhassan, Saad; Coskun, Serdar; Assiri, Abdullah M. 分享 收藏
Antigen Unmasking Is Required to Clinically Assess Levels and Localisation Patterns of Phospholipase C Zeta in Human Sperm Kashir, Junaid; Mistry, Bhavesh V. V.; BuSaleh, Lujain; Nomikos, Michail; Almuqayyil, Sarah; Abu-Dawud, Raed; AlYacoub, Nadya; Hamdan, Hamdan; AlHassan, Saad; Lai, F. Anthony; Assiri, Abdullah M. M.; Coskun, Serdar 分享 收藏
Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways Daghestani, Maha H.; Alqahtani, Huda A.; AlBakheet, AlBandary; Al Deery, Mashael; Awartani, Khalid A.; Daghestani, Mazin H.; Kaya, Namik; Warsy, Arjumand; Coskun, Serdar; Colak, Dilek 分享 收藏
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A genomics approach to male infertility Alhathal, Naif; Maddirevula, Sateesh; Coskun, Serdar; Alali, Hamed; Assoum, Mirna; Morris, Thomas; Deek, Hesham A.; Hamed, Soha A. C.; Alsuhaibani, Shaheed; Mirdawi, Abdulmalik; Ewida, Nour; Al-Qahtani, Mashael; Ibrahim, Niema; Abdulwahab, Firdous; Altaweel, Waleed; Dasouki, Majed J.; Assiri, Abdullah; Qabbaj, Wafa; Alkuraya, Fowzan S. 分享 收藏
Phospholipase C zeta profiles are indicative of optimal sperm parameters and fertilisation success in patients undergoing fertility treatment 磷脂酶C zeta曲线指示接受生育治疗的患者的最佳精子参数和受精成功 Kashir, Junaid; Mistry, Bhavesh V.; BuSaleh, Lujain; Abu-Dawas, Reema; Nomikos, Michail; Ajlan, Ahmed; Abu-Dawud, Raed; AlYacoub, Nadya; AlHassan, Saad; Lai, F. Anthony; Assiri, Abdullah M.; Coskun, Serdar 分享 收藏
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases 大脑中UGP2的缺失导致严重的癫痫性脑病,强调必需基因的双等位基因亚型特异性起始缺失突变可导致遗传性疾病 Perenthaler, Elena; Nikoncuk, Anita; Yousefi, Soheil; Berdowski, Woutje M.; Alsagob, Maysoon; Capo, Ivan; van der Linde, Herma C.; van den Berg, Paul; Jacobs, Edwin H.; Putar, Darija; Ghazvini, Mehrnaz; Aronica, Eleonora; van IJcken, Wilfred F. J.; de Valk, Walter G.; Medici-van den Herik, Evita; van Slegtenhorst, Marjon; Brick, Lauren; Kozenko, Mariya; Kohler, Jennefer N.; Bernstein, Jonathan A.; Monaghan, Kristin G.; Begtrup, Amber; Torene, Rebecca; Al Futaisi, Amna; Al Murshedi, Fathiya; Mani, Renjith; Al Azri, Faisal; Kamsteeg, Erik-Jan; Mojarrad, Majid; Eslahi, Atieh; Khazaei, Zaynab; Darmiyan, Fateme Massinaei; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Vandrovcova, Jana; Zafar, Faisal; Rana, Nuzhat; Kandaswamy, Krishna K.; Hertecant, Jozef; Bauer, Peter; AlMuhaizea, Mohammed A.; Salih, Mustafa A.; Aldosary, Mazhor; Almass, Rawan; Al-Quait, Laila; Qubbaj, Wafa; Coskun, Serdar; Alahmadi, Khaled O.; Hamad, Muddathir H. A.; Alwadaee, Salem; Awartani, Khalid; Dababo, Anas M.; Almohanna, Futwan; Colak, Dilek; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Gunel, Murat; Ercan-Sencicek, A. Gulhan; Passi, Gouri Rao; Cheema, Huma Arshad; Efthymiou, Stephanie; Houlden, Henry; Bertoli-Avella, Aida M.; Brooks, Alice S.; Retterer, Kyle; Maroofian, Reza; Kaya, Namik; van Ham, Tjakko J.; Barakat, Tahsin Stefan 分享 收藏
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Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro Natesan, Senthilkumar A.; Bladon, Alex J.; Coskun, Serdar; Qubbaj, Wafa; Prates, Renata; Munne, Santiago; Coonen, Edith; Dreesen, Joseph C. F. M.; Stevens, Servi J. C.; Paulussen, Aimee D. C.; Stock-Myer, Sharyn E.; Wilton, Leeanda J.; Jaroudi, Souraya; Wells, Dagan; Brown, Anthony P. C.; Handyside, Alan H. 分享 收藏
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