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Publisher : biomed central

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Academic Journal

A new family with spastic paraplegia type 51 and novel mutations in AP4E1.

Authors : Winkler I; 2nd Department of Gynaecology, St. Johns Centre Oncology, Lublin Oncology Centre, 7 Jaczewski Street, 20-090, Lublin, Poland. .; 2nd Department of Gynaecology, Lublin Medical University, 8 Jaczewski Street, 20-954, Lublin, Poland. .

Subjects: Mutation* ; Pedigree* ; Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/Adaptor Protein Complex 4*/genetics

Source: BMC medical genomics [BMC Med Genomics] 2021 May 18; Vol. 14 (1), pp. 131. Date of Electronic Publication: 2021 May 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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Academic Journal

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.

Authors : Ruan WC; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, Zhejiang, 310052, China.; Wang J

Subjects: Adaptor Protein Complex 4/Adaptor Protein Complex 4/Adaptor Protein Complex 4/*genetics ; Adaptor Protein Complex beta Subunits/Adaptor Protein Complex beta Subunits/Adaptor Protein Complex beta Subunits/*genetics ; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics

Source: BMC medical genetics [BMC Med Genet] 2020 Mar 14; Vol. 21 (1), pp. 51. Date of Electronic Publication: 2020 Mar 14.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Academic Journal

Severe congenital microcephaly with AP4M1 mutation, a case report.

Authors : Duerinckx S; IRIBHM, Université Libre de Bruxelles, Brussels, Belgium. .; Verhelst H

Subjects: Mutation*; Adaptor Protein Complex 4/Adaptor Protein Complex 4/Adaptor Protein Complex 4/*genetics ; Microcephaly/Microcephaly/Microcephaly/*genetics

Source: BMC medical genetics [BMC Med Genet] 2017 May 02; Vol. 18 (1), pp. 48. Date of Electronic Publication: 2017 May 02.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Academic Journal

AP4M1 as a prognostic biomarker associated with cell proliferation, migration and immune regulation in hepatocellular carcinoma.

Authors : Peng, Yuanhao; Li, Xuanxuan; Kang, Kuo

Subjects: CELL proliferation; GENE expression; BIOMARKERS

Source: Cancer Cell International; 10/11/2023, Vol. 23 Issue 1, p1-13, 13p

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Academic Journal

Shotgun proteomics of peach fruit reveals major metabolic pathways associated to ripening.

Authors : Nilo-Poyanco, Ricardo; Moraga, Carol; Benedetto, Gianfranco

Subjects: FRUIT ripening; PEACH; PROTEOMICS

Source: BMC Genomics; 1/7/2021, Vol. 22 Issue 1, p1-29, 29p

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Academic Journal

Classification of adaptor proteins using recurrent neural networks and PSSM profiles.

Authors : Khanh Le, Nguyen Quoc; Nguyen, Quang H.; Chen, Xuan

Subjects: RECURRENT neural networks; CARRIER proteins; RECEIVER operating characteristic curves

Source: BMC Genomics; 12/24/2019, Vol. 20 Issue 9, p1-9, 9p, 2 Diagrams, 2 Charts, 2 Graphs

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Academic Journal

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Authors : Bettencourt, Conceição; Salpietro, Vincenzo; Efthymiou, Stephanie

Subjects: PARAPLEGIA; EPILEPSY; ATAXIA

Source: Orphanet Journal of Rare Diseases; 11/2/2017, Vol. 12, p1-7, 7p

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Academic Journal

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Authors : Zahir, Farah R.; Mwenifumbo, Jill C.; Chun, Hye-Jung E.

Subjects: NUCLEOTIDE sequencing; INTELLECTUAL disabilities; SINGLE nucleotide polymorphisms

Source: BMC Genomics; 5/24/2017, Vol. 18, p1-16, 16p, 5 Diagrams, 2 Charts, 1 Graph

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Academic Journal

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

Authors : Buchert, Rebecca; Nesbitt, Addie I.; Tawamie, Hasan

Subjects: INTELLECTUAL disabilities; MICROCEPHALY; CRANIOFACIAL abnormalities

Source: Orphanet Journal of Rare Diseases; 9/29/2016, Vol. 11, p1-7, 7p

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Academic Journal

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.

Authors : Jameel, Muhammad; Klar, Joakim; Tariq, Muhammad

Subjects: CEREBRAL palsy genetics; INTELLECTUAL disabilities; DNA mutational analysis

Source: BMC Medical Genetics; 2014, Vol. 15 Issue 1, p69-81, 13p

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