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Items: 1 to 20 of 33

1.
Structural Evaluation and Conformational Dynamics of ZNF141T474I Mutation Provoking Postaxial Polydactyly Type A
Yasir Ali, Faisal Ahmad, Muhammad Farhat Ullah, Noor Ul Haq, M. Inam Ul Haq, Abdul Aziz, Ferjeni Zouidi, M. Ijaz Khan, Sayed M. Eldin
Bioengineering (Basel) 2022 Dec; 9(12): 749. Published online 2022 Dec 1. doi: 10.3390/bioengineering9120749
PMCID:
PMC9774408
ArticlePDF–2.9M
2.
Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A
Yanyi Yao, Shan Deng, Feng Zhu
Genes (Basel) 2022 Jul; 13(7): 1230. Published online 2022 Jul 11. doi: 10.3390/genes13071230
PMCID:
PMC9316509
ArticlePDF–16M
3.
PAPA-1 Is a Nuclear Binding Partner of IGFBP-2 and Modulates Its Growth-Promoting Actions
Kenichi Miyako, Laura J. Cobb, Malik Francis, Alden Huang, Bonnie Peng, John E. Pintar, Hiroyoshi Ariga, Pinchas Cohen
Mol Endocrinol. 2009 Feb; 23(2): 169–175. Published online 2008 Dec 18. doi: 10.1210/me.2008-0168
PMCID:
PMC2646620
Article
4.
PapA1 and PapA2 are acyltransferases essential for the biosynthesis of the Mycobacterium tuberculosis virulence factor Sulfolipid-1
Pawan Kumar, Michael W. Schelle, Madhulika Jain, Fiona L. Lin, Christopher J. Petzold, Michael D. Leavell, Julie A. Leary, Jeffery S. Cox, Carolyn R. Bertozzi
Proc Natl Acad Sci U S A. 2007 Jul 3; 104(27): 11221–11226. Published online 2007 Jun 25. doi: 10.1073/pnas.0611649104
PMCID:
PMC2040880
ArticlePDF–573K
5.
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis.
U Radhakrishna, J L Blouin, H Mehenni, U C Patel, M N Patel, J V Solanki, S E Antonarakis
Am J Hum Genet. 1997 Mar; 60(3): 597–604.
PMCID:
PMC1712530
SummaryPage BrowsePDF–2.4M
6.
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
U Radhakrishna, D Bornholdt, H S Scott, U C Patel, C Rossier, H Engel, A Bottani, D Chandal, J L Blouin, J V Solanki, K H Grzeschik, S E Antonarakis
Am J Hum Genet. 1999 Sep; 65(3): 645–655. doi: 10.1086/302557
PMCID:
PMC1377970
SummaryPDF–1.0M
7.
Autosomal recessive postaxial polydactyly type A in a Sicilian family.
F Mollica, S L Volti, G Sorge
J Med Genet. 1978 Jun; 15(3): 212–216. doi: 10.1136/jmg.15.3.212
PMCID:
PMC1013679
SummaryPage BrowsePDF–992K
8.
A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report
Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu, Chunquan Cai
BMC Med Genet. 2019; 20: 174. Published online 2019 Nov 9. doi: 10.1186/s12881-019-0889-5
PMCID:
PMC6842497
ArticlePDF–1.0M
9.
Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly
Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit
Mol Genet Genomic Med. 2019 Jul; 7(7): e00627. Published online 2019 May 21. doi: 10.1002/mgg3.627
PMCID:
PMC6625144
ArticlePDF–760K
10.
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice
Isabelle Schrauwen, Arnaud PJ Giese, Abdul Aziz, David Tino Lafont, Imen Chakchouk, Regie Lyn P Santos-Cortez, Kwanghyuk Lee, Anushree Acharya, Falak Sher Khan, Asmat Ullah, Deborah A Nickerson, Michael J Bamshad, Ghazanfar Ali, Saima Riazuddin, Muhammad Ansar, Wasim Ahmad, Zubair M Ahmed, Suzanne M Leal
J Bone Miner Res. Author manuscript; available in PMC 2019 Apr 30.
Published in final edited form as: J Bone Miner Res. 2019 Feb; 34(2): 375–386. Published online 2018 Nov 5. doi: 10.1002/jbmr.3594
PMCID:
PMC6489482
ArticlePDF–2.4M
11.
Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations
Aleksander Jamsheer, Anna Sowińska, Tomasz Trzeciak, Małgorzata Jamsheer-Bratkowska, Anita Geppert, Anna Latos-Bieleńska
J Appl Genet. 2012; 53(4): 415–422. Published online 2012 Aug 18. doi: 10.1007/s13353-012-0109-x
PMCID:
PMC3477483
ArticlePDF–253K
12.
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
B S Sayli, A N Akarsu, U Sayli, O Akhan, S Ceylaner, M Sarfarazi
J Med Genet. 1995 Jun; 32(6): 421–434. doi: 10.1136/jmg.32.6.421
PMCID:
PMC1050481
SummaryPage BrowsePDF–3.0M
13.
GLI3 mutations in human disorders mimic Drosophila Cubitus interruptus protein functions and localization
Sang Hoon Shin, Priit Kogerman, Erika Lindström, Rune Toftgárd, Leslie G. Biesecker
Proc Natl Acad Sci U S A. 1999 Mar 16; 96(6): 2880–2884. doi: 10.1073/pnas.96.6.2880
PMCID:
PMC15863
ArticlePDF–777K
14.
The Key Roles of Mycobacterium tuberculosis FadD23 C-terminal Domain in Catalytic Mechanisms
Mengrong Yan, Lin Cao, Li Zhao, Weihong Zhou, Xiang Liu, Wei Zhang, Zihe Rao
Front Microbiol. 2023; 14: 1090534. Published online 2023 Feb 21. doi: 10.3389/fmicb.2023.1090534
PMCID:
PMC9989471
ArticlePDF–1.3M
15.
Local Anesthesia Alone for Postaxial Polydactyly Surgery in Infants
Kim A. Bjorklund, Meghan O’Brien
Hand (N Y) 2022 Nov; 17(6): 1286–1291. Published online 2021 Feb 25. doi: 10.1177/1558944721994255
PMCID:
PMC9608309
ArticlePDF–488K
16.
Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly
Valeria Calcaterra, Rossella Lamberti, Claudia Viggiano, Paola Baldassarre, Luigina Spaccini, Rosa Maria Alfano, Giana Izzo, Laura Grazia Valentini, Gianvincenzo Zuccotti
Case Rep Pediatr. 2022; 2022: 8059409. Published online 2022 May 19. doi: 10.1155/2022/8059409
PMCID:
PMC9135578
ArticlePDF–769K
17.
Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability
Ahmed Waqas, Anam Nayab, Shabnam Shaheen, Safdar Abbas, Muhammad Latif, Misbahuddin M. Rafeeq, Ibtesam S. Al-Dhuayan, Amany I. Alqosaibi, Mashael M. Alnamshan, Ziaullah M. Sain, Alaa Hamed Habib, Qamre Alam, Muhammad Umair, Muhammad Arif Nadeem Saqib
Front Genet. 2022; 13: 878274. Published online 2022 Apr 28. doi: 10.3389/fgene.2022.878274
PMCID:
PMC9096442
ArticlePDF–1.3M
18.
LIMITED SURFACE EXAMINATION TO EVALUATE POTENTIAL TERATOGENS IN A RESOURCE-LIMITED SETTING
Lewis B. Holmes, Hanah Z. Nasri, Anne-Therese Hunt, Rebecca Zash, Roger L. Shapiro
Birth Defects Res. Author manuscript; available in PMC 2022 May 15.
Published in final edited form as: Birth Defects Res. 2021 May 15; 113(9): 702–707. Published online 2021 Mar 28. doi: 10.1002/bdr2.1887
PMCID:
PMC8148051
ArticlePDF–330K
19.
A novel mutation alters the stability of PapA2 resulting in the complete abrogation of sulfolipids in clinical mycobacterial strains
Vipul Panchal, Nidhi Jatana, Anchal Malik, Bhupesh Taneja, Ravikant Pal, Apoorva Bhatt, Gurdyal S Besra, Lipi Thukral, Sarika Chaudhary, Vivek Rao
FASEB Bioadv. 2019 May; 1(5): 306–319. Published online 2019 Apr 10. doi: 10.1096/fba.2018-00039
PMCID:
PMC6996325
ArticlePDF–2.3M
20.
Treatment of the Mirror Foot with Central Ray Resection: Report of 2 Cases
Gholam Hossain Shahcheraghi, MD, FRCSC, Mahzad Javid, MD
Iran J Med Sci. 2018 Sep; 43(5): 550–553.
PMCID:
PMC6123547
ArticlePDF–563K

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