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Select item 115274531.

Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity

Gianmarco Pallavicini, Amanda Moccia, Giorgia Iegiani, Roberta Parolisi, Emily R. Peirent, Gaia Elena Berto, Martina Lorenzati, Rami Y. Tshuva, Alessia Ferraro, Fiorella Balzac, Emilia Turco, Shachi U. Salvi, Hedvig F. Myklebust, Sophia Wang, Julia Eisenberg, Maushmi Chitale, Navjit S. Girgla, Enrica Boda, Orly Reiner, Annalisa Buffo, Ferdinando Di Cunto, Stephanie L. Bielas

J Clin Invest. 2024 Nov 1; 134(21): e175435. Published online 2024 Nov 1. doi: 10.1172/JCI175435

PMCID:: PMC11527453

Abstract Article PDF–15M

Select item 114451902.

Effects of cottonseed meal protein hydrolysate on intestinal microbiota of yellow-feather broilers

Xiaoyang Zhang, Hailiang Wang, Yujie Niu, Cheng Chen, Wenju Zhang

Front Microbiol. 2024; 15: 1434252. Published online 2024 Sep 18. doi: 10.3389/fmicb.2024.1434252

PMCID:: PMC11445190

Abstract Article PDF–4.9M

Select item 113928383.

The genetic cause of neurodevelopmental disorders in 30 consanguineous families

Sohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, Asmat Shaheen, Gohar Zaman, Jawad Ahmed, Fahim Shah, Sundus Khwaja, Abid Jan, Nida Khan, Mohammad Azhar Kamal, Qamre Alam, Safdar Abbas, Saman Farman, Ahmed Waqas, Afnan Alkathiri, Abdullah Hamadi, Federico Santoni, Naseeb Ullah, Bisma Khalid, Stylianos E. Antonarakis, Khalid A Fakhro, Muhammad Umair, Muhammad Ansar

Front Med (Lausanne) 2024; 11: 1424753. Published online 2024 Aug 30. doi: 10.3389/fmed.2024.1424753

PMCID:: PMC11392838

Abstract Article PDF–11M

Select item 111373534.

Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly

Shulin Luo, Lingyan Ren, Rongping Wang, Jianxin Hu, Wei Wei, Yurong Feng, Shengwen Huang

Heliyon. 2024 May 30; 10(10): e30285. Published online 2024 May 8. doi: 10.1016/j.heliyon.2024.e30285

PMCID:: PMC11137353

Abstract Article PDF–3.5M

Select item 111151815.

What’s the hype about CDK5RAP2?

Nadine Kraemer, Lina Issa, Stefanie C. R. Hauck, Shyamala Mani, Olaf Ninnemann, Angela M. Kaindl

Cell Mol Life Sci. 2011 May; 68(10): 1719–1736. Published online 2011 Feb 17. doi: 10.1007/s00018-011-0635-4

PMCID:: PMC11115181

Abstract Article PDF–2.8M

Select item 111053546.

Impact of DNA repair and stability defects on cortical development

Federico T. Bianchi, Gaia E. Berto, Ferdinando Di Cunto

Cell Mol Life Sci. 2018 Nov; 75(21): 3963–3976. Published online 2018 Aug 16. doi: 10.1007/s00018-018-2900-2

PMCID:: PMC11105354

Abstract Article PDF–1.3M

Select item 109937757.

Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript

Haizhu Chen, Ying Zheng, Hua Wu, Naiqing Cai, Guorong Xu, Yi Lin, Jin-Jing Li

Front Neurol. 2024; 15: 1341864. Published online 2024 Mar 21. doi: 10.3389/fneur.2024.1341864

PMCID:: PMC10993775

Abstract Article PDF–1.6M

Select item 106978208.

Mutations in abnormal spindle disrupt temporal transcription factor expression and trigger immune responses in the Drosophila brain

Maria C Mannino, Mercedes Bartels Cassidy, Steven Florez, Zeid Rusan, Shalini Chakraborty, Todd Schoborg

Genetics. 2023 Dec; 225(4): iyad188. Published online 2023 Oct 13. doi: 10.1093/genetics/iyad188

PMCID:: PMC10697820

Abstract Article PDF–14M

Select item 104362229.

The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM

Xingxuan Wu, Zheng Li, Zhao-Qi Wang, Xingzhi Xu

Front Neurosci. 2023; 17: 1242448. Published online 2023 Aug 3. doi: 10.3389/fnins.2023.1242448

PMCID:: PMC10436222

Abstract Article PDF–1.8M

Select item 1034046310.

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size

Sarah Farcy, Hassina Hachour, Nadia Bahi-Buisson, Sandrine Passemard

Cells. 2023 Jul; 12(13): 1807. Published online 2023 Jul 7. doi: 10.3390/cells12131807

PMCID:: PMC10340463

Abstract Article PDF–2.4M

Select item 1033888611.

The impact of TP53 activation and apoptosis in primary hereditary microcephaly

Giorgia Iegiani, Alessia Ferraro, Gianmarco Pallavicini, Ferdinando Di Cunto

Front Neurosci. 2023; 17: 1220010. Published online 2023 Jun 28. doi: 10.3389/fnins.2023.1220010

PMCID:: PMC10338886

Abstract Article PDF–1.5M

Select item 1029724012.

Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report

Behjat Ul Mudassir, Zehra Agha

Children (Basel) 2023 Jun; 10(6): 1027. Published online 2023 Jun 8. doi: 10.3390/children10061027

PMCID:: PMC10297240

Abstract Article PDF–1.9M

Select item 1024152113.

Microcephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors

Claudia Dell'Amico, Marilyn M Angulo Salavarria, Yutaka Takeo, Ichiko Saotome, Maria Teresa Dell'Anno, Maura Galimberti, Enrica Pellegrino, Elena Cattaneo, Angeliki Louvi, Marco Onorati

eLife. 2023; 12: e81716. Published online 2023 Jun 5. doi: 10.7554/eLife.81716

PMCID:: PMC10241521

Abstract Article PDF–12M

Select item 1004769314.

The Multiple Mitotic Roles of the ASPM Orthologous Proteins: Insight into the Etiology of ASPM-Dependent Microcephaly

Alyona V. Razuvaeva, Lucia Graziadio, Valeria Palumbo, Gera A. Pavlova, Julia V. Popova, Alexey V. Pindyurin, Silvia Bonaccorsi, Maria Patrizia Somma, Maurizio Gatti

Cells. 2023 Mar; 12(6): 922. Published online 2023 Mar 16. doi: 10.3390/cells12060922

PMCID:: PMC10047693

Abstract Article PDF–917K

Select item 995472415.

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly

Maria Asif, Uzma Abdullah, Peter Nürnberg, Sigrid Tinschert, Muhammad Sajid Hussain

Cells. 2023 Feb; 12(4): 642. Published online 2023 Feb 16. doi: 10.3390/cells12040642

PMCID:: PMC9954724

Abstract Article PDF–395K

Select item 994739716.

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

Ethiraj Ravindran, Gaetan Lesca, Louis Januel, Linus Goldgruber, Achim Dickmanns, Henri Margot, Angela M. Kaindl

Front Neurol. 2023; 14: 1124886. Published online 2023 Feb 9. doi: 10.3389/fneur.2023.1124886

PMCID:: PMC9947397

Abstract Article PDF–988K

Select item 992880017.

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M. Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M. Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J. Sedlazeck, Jill V. Hunter, Shalini N. Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E. Posey, Claudia M.B. Carvalho, Richard A. Gibbs, James R. Lupski

Am J Med Genet A. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: Am J Med Genet A. 2023 Mar; 191(3): 794–804. Published online 2023 Jan 4. doi: 10.1002/ajmg.a.63080

PMCID:: PMC9928800

Abstract Article PDF–1.0M

Select item 989272418.

CpH methylome analysis in human cortical neurons identifies novel gene pathways and drug targets for opioid use disorder

Sheila T. Nagamatsu, Gregory Rompala, Yasmin L. Hurd, Diana L. Núñez-Rios, Janitza L. Montalvo-Ortiz, Traumatic Stress Brain Research Group

Front Psychiatry. 2022; 13: 1078894. Published online 2023 Jan 19. doi: 10.3389/fpsyt.2022.1078894

PMCID:: PMC9892724

Abstract Article PDF–11M

Select item 988208719.

The neurodevelopmental transcriptome of the Drosophila melanogaster microcephaly gene abnormal spindle reveals a role for temporal transcription factors and the immune system in regulating brain size

Maria C. Mannino, Mercedes Bartels Cassidy, Steven Florez, Zeid Rusan, Shalini Chakraborty, Todd Schoborg

Version 1. bioRxiv. Preprint. 2023 Jan 10. doi: 10.1101/2023.01.09.523369

PMCID:: PMC9882087

Abstract Article PDF–24M

Select item 980131620.

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes

Hilmi Bolat, Safiye G. Sağer, Ayberk Türkyılmaz, Alper H. Çebi, Yasemin Akın, Hüseyin Onay, Ferda Özkınay, Gül Ünsel-Bolat

Mol Syndromol. 2022 Dec; 13(5): 363–369. Published online 2022 Apr 27. doi: 10.1159/000524391

PMCID:: PMC9801316

Abstract Article PDF–164K

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