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Select item 116416071.

PTH1R Suppressed Apoptosis of Mesenchymal Progenitors in Mandibular Growth

Chen Cui, Chuang Lu, Yanling Cai, Yuhua Xiong, Yihong Duan, Kaiwen Lan, Yi Fan, Xuedong Zhou, Xi Wei

Int J Mol Sci. 2024 Dec; 25(23): 12607. Published online 2024 Nov 24. doi: 10.3390/ijms252312607

PMCID:: PMC11641607

Article PDF–5.8M

Select item 116217012.

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome

Tae-Yeon Eom, J. Eric Schmitt, Yiran Li, Christopher M. Davenport, Jeffrey Steinberg, Audrey Bonnan, Shahinur Alam, Young Sang Ryu, Leena Paul, Baranda S. Hansen, Khaled Khairy, Stephane Pelletier, Shondra M. Pruett-Miller, David R. Roalf, Raquel E. Gur, Beverly S. Emanuel, Donna M. McDonald-McGinn, Jesse N. Smith, Cai Li, Jason M. Christie, Paul A. Northcott, Stanislav S. Zakharenko

Nat Commun. 2024; 15: 10510. Published online 2024 Dec 5. doi: 10.1038/s41467-024-54837-3

PMCID:: PMC11621701

Article PDF–7.1M

Select item 115794723.

Disorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A

Wei Jin, Shaoshuai Jiang, Xinyi Liu, Yi He, Tuo Li, Jingchun Ma, Zhihong Chen, Xiaomei Lu, Xinguang Liu, Weinian Shou, Guoxiang Jin, Junjun Ding, Zhongjun Zhou

Nat Commun. 2024; 15: 10046. Published online 2024 Nov 20. doi: 10.1038/s41467-024-54338-3

PMCID:: PMC11579472

Article PDF–5.8M

Select item 115197364.

Loss of Sc5d results in micrognathia due to a failure in osteoblast differentiation

Chihiro Iwaya, Akiko Suzuki, Junichi Iwata

J Adv Res. 2024 Nov; 65: 153–165. Published online 2023 Dec 10. doi: 10.1016/j.jare.2023.12.008

PMCID:: PMC11519736

Article PDF–5.9M

Select item 113847895.

Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage

Martin D. Burkhalter, Tom Stiff, Lars D. Maerz, Teresa Casar Tena, Heike Wiese, Julian Gerhards, Steffen A. Sailer, Linh Anna Trúc Vu, Max Duong Phu, Cornelia Donow, Marius Alupei, Sebastian Iben, Marco Groth, Sebastian Wiese, Joseph A. Church, Penelope A. Jeggo, Melanie Philipp

Cell Death Dis. 2024 Sep; 15(9): 660. Published online 2024 Sep 9. doi: 10.1038/s41419-024-07042-5

PMCID:: PMC11384789

Article PDF–5.0M

Select item 113221666.

Cellular transitions during cranial suture establishment in zebrafish

D’Juan T. Farmer, Jennifer E. Dukov, Hung-Jhen Chen, Claire Arata, Jose Hernandez-Trejo, Pengfei Xu, Camilla S. Teng, Robert E. Maxson, J. Gage Crump

Nat Commun. 2024; 15: 6948. Published online 2024 Aug 13. doi: 10.1038/s41467-024-50780-5

PMCID:: PMC11322166

Article PDF–14M

Select item 112621537.

CHD7 regulates craniofacial cartilage development via controlling HTR2B expression

Maximilian Breuer, Maximilian Rummler, Jaskaran Singh, Sabrina Maher, Charlotte Zaouter, Priyanka Jamadagni, Nicolas Pilon, Bettina M Willie, Shunmoogum A Patten

J Bone Miner Res. 2024 Apr; 39(4): 498–512. Published online 2024 Feb 4. doi: 10.1093/jbmr/zjae024

PMCID:: PMC11262153

Article PDF–2.1M

Select item 112475048.

Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome

Shruti S. Tophkhane, Katherine Fu, Esther M. Verheyen, Joy M. Richman

Dis Model Mech. 2024 Jun 1; 17(6): dmm050584. Published online 2024 Jul 5. doi: 10.1242/dmm.050584

PMCID:: PMC11247504

Article

Select item 112126369.

Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis

Marek Hampl, Nela Jandová, Denisa Lusková, Monika Nováková, Tereza Szotkowská, Štěpán Čada, Jan Procházka, Jiri Kohoutek, Marcela Buchtová

Dis Model Mech. 2024 Jun 1; 17(6): dmm050261. Published online 2024 Jun 20. doi: 10.1242/dmm.050261

PMCID:: PMC11212636

Article

Select item 1113965510.

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification

Nicole Knöpfel, Davide Zecchin, Hanna Richardson, Satyamaanasa Polubothu, Sara Barberan-Martin, Thomas Cullup, Karolina Gholam, Simon Heales, Steve Krywawych, Pablo López-Balboa, Noreen Muwanga-Nanyonjo, Olumide Ogunbiyi, Clinda Puvirajasinghe, Lea Solman, Katherine Swarbrick, Samira B. Syed, Zubair Tahir, Martin M. Tisdall, Jeremy Allgrove, Alexander D. Chesover, Sarah E. Aylett, Thomas S. Jacques, Fadil M. Hannan, Ulrike Löbel, Robert K. Semple, Rajesh V. Thakker, Veronica A. Kinsler

J Invest Dermatol. 2024 Apr; 144(4): 820–832.e9. doi: 10.1016/j.jid.2023.09.008

PMCID:: PMC11139655

Article PDF–3.1M

Select item 1108028611.

A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens

Noriko Funato, Arja Heliövaara, Cedric Boeckx

Am J Hum Genet. 2024 May 2; 111(5): 939–953. Published online 2024 Apr 11. doi: 10.1016/j.ajhg.2024.03.012

PMCID:: PMC11080286

Article PDF–5.0M

Select item 1103406212.

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review

Aljazi Al-Maraghi, Waleed Aamer, Mubarak Ziab, Elbay Aliyev, Najwa Elbashir, Sura Hussein, Sasirekha Palaniswamy, Dhullipala Anand, Donald R. Love, Adrian Charles, Ammira A.S.Akil, Khalid A. Fakhro

BMC Nephrol. 2024; 25: 139. Published online 2024 Apr 22. doi: 10.1186/s12882-024-03569-z

PMCID:: PMC11034062

Article PDF–2.2M

Select item 1086665613.

Piezo1 agonist restores meningeal lymphatic vessels, drainage, and brain-CSF perfusion in craniosynostosis and aged mice

Matt J. Matrongolo, Phillip S. Ang, Junbing Wu, Aditya Jain, Joshua K. Thackray, Akash Reddy, Chi Chang Sung, Gaëtan Barbet, Young-Kwon Hong, Max A. Tischfield

J Clin Invest. 2024 Feb 15; 134(4): e171468. Published online 2023 Nov 2. doi: 10.1172/JCI171468

PMCID:: PMC10866656

Article PDF–20M

Select item 1079609414.

Yichen Yao, Xin Wang, Lichieh Lin, Xiaolei Zhang, Yan Wang

Aging Dis. 2024 Feb 1; 15(1): 282–294. Published online 2024 Feb 1. doi: 10.14336/AD.2023.0531

PMCID:: PMC10796094

Article PDF–1.3M

Select item 1078344115.

Concurrent impact of de novo mutations on cranial and cortical development in nonsyndromic craniosynostosis

Emre Kiziltug, Phan Q. Duy, Garrett Allington, Andrew T. Timberlake, Riki Kawaguchi, Aaron S. Long, Mariana N. Almeida, Michael L. DiLuna, Seth L. Alper, Michael Alperovich, Daniel H. Geschwind, Kristopher T. Kahle

J Neurosurg Pediatr. 2023 Oct 27 : 2023.8.PEDS23155. Published online 2023 Oct 27. doi: 10.3171/2023.8.PEDS23155

PMCID:: PMC10783441

Article PDF–22M

Select item 1073518916.

Autonomous and non-cell autonomous role of cilia in structural birth defects in mice

Richard J. B. Francis, Jovenal T. San Agustin, Heather L. Szabo Rogers, Cheng Cui, Julie A. Jonassen, Thibaut Eguether, John A. Follit, Cecilia W. Lo, Gregory J. Pazour

PLoS Biol. 2023 Dec; 21(12): e3002425. Published online 2023 Dec 11. doi: 10.1371/journal.pbio.3002425

PMCID:: PMC10735189

Article PDF–9.1M

Select item 1072407217.

Ribosome biogenesis controls cranial suture MSC fate via the complement pathway in mouse and human iPSC models

Supawadee Jariyasakulroj, Wei Zhang, Jianhui Bai, Minjie Zhang, Zhipeng Lu, Jian-Fu Chen

Stem Cell Reports. 2023 Dec 12; 18(12): 2370–2385. Published online 2023 Nov 16. doi: 10.1016/j.stemcr.2023.10.015

PMCID:: PMC10724072

Article PDF–8.5M

Select item 1070188418.

Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders

Brent H. Wyatt, Thomas O. Raymond, Lisa A. Lansdon, Benjamin W. Darbro, Jeffrey C. Murray, John Robert Manak, Amanda J. G. Dickinson

Genesis. Author manuscript; available in PMC 2023 Dec 7.

Published in final edited form as: Genesis. 2021 Feb; 59(1-2): e23394. Published online 2020 Sep 11. doi: 10.1002/dvg.23394

PMCID:: PMC10701884

Article PDF–2.6M

Select item 1061405319.

Identification of an adverse outcome pathway (AOP) for chemical-induced craniofacial anomalies using the transgenic zebrafish model

Shujie Liu, Toru Kawanishi, Atsuko Shimada, Naohiro Ikeda, Masayuki Yamane, Hiroyuki Takeda, Junichi Tasaki

Toxicol Sci. 2023 Nov; 196(1): 38–51. Published online 2023 Aug 2. doi: 10.1093/toxsci/kfad078

PMCID:: PMC10614053

Article PDF–2.1M

Select item 1060297120.

Karina C. Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S. Dreseris, Cassandra Wong, Aline Iacovone, Carrie-Lynn Soltys, Riyana Babul-Hirji, Osvaldo Artigalas, Arthur Antolini-Tavares, Anne-Claude Gingras, Eric Campos, Denise P. Cavalcanti, Peter Kannu

Hum Genet. 2023; 142(11): 1571–1586. Published online 2023 Sep 27. doi: 10.1007/s00439-023-02598-2

PMCID:: PMC10602971

Article PDF–4.1M

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