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Select item 111807521.

Allogeneic hematopoietic stem cell transplant for familial hemophagocytic lymphohistiocytosis: a case report and literature review

Liu Bingjie, Zhang Linlin, Ma Futian, Xuan Fan, Du Huan, Xiaoli Wu, Lixia Zhou, Wang Fuxu, Zhang Xuejun, Wang Ying

Front Immunol. 2024; 15: 1391074. Published online 2024 Jun 3. doi: 10.3389/fimmu.2024.1391074

PMCID:: PMC11180752

Abstract Article PDF–2.7M

Select item 111701022.

Case report: Pilomatrix carcinoma with PDL1 expression and CDKN2A aberrant

Ayinuer Abula, Sheng-Qiang Ma, Sisi Wang, Wei Peng, Xiaming Pei, Zhe-Yu Hu

Front Immunol. 2024; 15: 1337400. Published online 2024 May 28. doi: 10.3389/fimmu.2024.1337400

PMCID:: PMC11170102

Abstract Article PDF–7.0M

Select item 111653363.

Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review

Jing Wang, Huijun Yu, Xiaoying Zhang, Xiuyun Zhou, Ya Tan, Zhi Li, Ying Gu, Li Lin

Mol Genet Genomic Med. 2024 Jun; 12(6): e2477. Published online 2024 Jun 11. doi: 10.1002/mgg3.2477

PMCID:: PMC11165336

Abstract Article PDF–1.1M

Select item 111226444.

Macrocephaly and Finger Changes: A Narrative Review

Cecilia Lazea, Romana Vulturar, Adina Chiș, Svetlana Encica, Melinda Horvat, Cristina Belizna, Laura-Otilia Damian

Int J Mol Sci. 2024 May; 25(10): 5567. Published online 2024 May 20. doi: 10.3390/ijms25105567

PMCID:: PMC11122644

Abstract Article PDF–865K

Select item 110567055.

Transcription factor PBX4 regulates limb development and haematopoiesis in mice

Yan Ning, Shuguang Duo, Xiwen Lin, Hongbo Zhang, Jifeng Fei, Bao Zhang, Yanyun Zeng, Dan Xie, Jian Chen, Xiaowei Liu, Chunsheng Han

Cell Prolif. 2024 May; 57(5): e13580. Published online 2024 Jan 17. doi: 10.1111/cpr.13580

PMCID:: PMC11056705

Abstract Article PDF–4.5M

Select item 110415976.

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff

J Med Genet. 2024 May; 61(5): 469–476. Published online 2024 Mar 8. doi: 10.1136/jmg-2023-109646

PMCID:: PMC11041597

Abstract Article PDF–1.5M

Select item 110216847.

Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2

Erika Bastos Lima Freire, Catarina Brasil d’Alva, Mayara Ponte Madeira, Grayce Ellen da Cruz Paiva Lima, Virginia Oliveira Fernandes, Lindenberg Barbosa Aguiar, Leonardo Barreira Portella, Renan Galvão Ozório, Clarisse Mourão Melo Ponte, Ana Paula Dias Rangel Montenegro, Renan Magalhães Montenegro Junior

Front Endocrinol (Lausanne) 2024; 15: 1326700. Published online 2024 Apr 3. doi: 10.3389/fendo.2024.1326700

PMCID:: PMC11021684

Abstract Article PDF–2.0M

Select item 109849948.

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice

Han Wang, Xiumin Chen, Xiaolu Meng, Yixuan Cao, Shirui Han, Keqiang Liu, Ximeng Zhao, Xiuli Zhao, Xue Zhang

Bone Res. 2024; 12: 21. Published online 2024 Apr 1. doi: 10.1038/s41413-024-00322-y

PMCID:: PMC10984994

Abstract Article PDF–3.5M

Select item 109725949.

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia

Vladimir Camarena, Monique M. Williams, Alejo A. Morales, Mohammad F. Zafeer, Okan V. Kilic, Ali Kamiar, Clemer Abad, Monica A. Rasmussen, Laurence M. Briski, LéShon Peart, Guney Bademci, Deborah S. Barbouth, Sarah Smithson, Gaofeng Wang, Lina A. Shehadeh, Katherina Walz, Mustafa Tekin

JCI Insight. 2024 Mar 8; 9(5): e174417. Published online 2024 Feb 1. doi: 10.1172/jci.insight.174417

PMCID:: PMC10972594

Abstract Article PDF–6.0M

Select item 1094552410.

Depletion of SMN protein in mesenchymal progenitors impairs the development of bone and neuromuscular junction in spinal muscular atrophy

Sang-Hyeon Hann, Seon-Yong Kim, Ye Lynne Kim, Young-Woo Jo, Jong-Seol Kang, Hyerim Park, Se-Young Choi, Young-Yun Kong

eLife. 2024; 12: RP92731. Published online 2024 Feb 6. doi: 10.7554/eLife.92731

PMCID:: PMC10945524

Abstract Article PDF–15M

Select item 1090574611.

BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation

Rachel E. Musa, Kaitlyn L. Lester, Gabrielle Quickstad, Sara Vardabasso, Trevor V. Shumate, Ryan T. Salcido, Kai Ge, Karl B. Shpargel

Development. 2024 Jan 15; 151(2): dev202110. Published online 2024 Jan 24. doi: 10.1242/dev.202110

PMCID:: PMC10905746

Abstract Article

Select item 1087636712.

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study: Características clínicas e citogenéticas de uma amostra brasileira de pacientes com fenótipo de espectro óculo-aurículo-vertebral: um estudo transversal

Alessandra Pawelec da Silva, Rafael Fabiano Machado Rosa, Patrícia Trevisan, Juliana Cavalheiro Dorneles, Camila Saporiti Mesquita, Vinicius Freitas de Mattos, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen

Sao Paulo Med J. 2015; 133(3): 191–198. Published online 2014 Oct 17. doi: 10.1590/1516-3180.2013.7762204

PMCID:: PMC10876367

Abstract Article PDF–1.3M

Select item 1081506113.

Gollop–Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11

Adrian Odrzywolski, Beyhan Tüysüz, Philippe Debeer, Erika Souche, Arnout Voet, Boyan Dimitrov, Paulina Krzesińska, Joris Robert Vermeesch, Przemko Tylzanowski

Genes (Basel) 2024 Jan; 15(1): 129. Published online 2024 Jan 20. doi: 10.3390/genes15010129

PMCID:: PMC10815061

Abstract Article PDF–2.5M

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

Abstract Article PDF–1.3M

Select item 1052125415.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, Ariel Martinez, Max Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah Elsea, Valérie Cormier-Daire, Carlos R. Ferreira

Bone. Author manuscript; available in PMC 2023 Sep 26.

Published in final edited form as: Bone. 2020 Apr; 133: 115219. Published online 2020 Jan 7. doi: 10.1016/j.bone.2019.115219

PMCID:: PMC10521254

Abstract Article PDF–1.0M

Select item 1050803816.

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis

Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Alberto Santiago-Cornier, Sen Zhao, Steven W Hwang, Robert D Steiner, Terry Jianguo Zhang, Christina A Gurnett, Cathleen Raggio, Nan Wu, Nara Sobreira, Philip F Giampietro, Brian Ciruna

Hum Mol Genet. 2023 Oct 1; 32(19): 2913–2928. Published online 2023 Jul 18. doi: 10.1093/hmg/ddad117