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University of Umea Researchers Describe Advances in Medical Genomics (Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene).

Subjects: MEDICAL genomics; TRANSCRIPTION factors; AUDIOMETRY

• Source: Genomics & Genetics Weekly; 12/6/2024, p2862-2862, 1p

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Bioinformatics Research and qRT-PCR Verify Hub Genes and a Transcription Factor-MicroRNA Feedback Network in Intervertebral Disc Degeneration.

• Authors : Liu M; Graduate School, Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin, 300211, China.; Li H

Subjects: MicroRNAs*/MicroRNAs*/MicroRNAs*/genetics ; Intervertebral Disc Degeneration*/Intervertebral Disc Degeneration*/Intervertebral Disc Degeneration*/genetics ; Computational Biology*/Computational Biology*/Computational Biology*/methods

• Source: Applied biochemistry and biotechnology [Appl Biochem Biotechnol] 2024 Jun; Vol. 196 (6), pp. 3184-3198. Date of Electronic Publication: 2023 Aug 26.Publisher: Humana Press Country of Publication: United States NLM ID: 8208561 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

• Authors : Schirwani S; DDD Study;

Subjects: Genetic Predisposition to Disease*; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics ; Neurodevelopmental Disorders/Neurodevelopmental Disorders/Neurodevelopmental Disorders/*genetics

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3446-3458. Date of Electronic Publication: 2021 Aug 26.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms.

• Authors : Zamariolli M; Division of Genetics, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Burssed B

Subjects: Genetic Predisposition to Disease*; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics ; Goldenhar Syndrome/Goldenhar Syndrome/Goldenhar Syndrome/*genetics

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jul; Vol. 185 (7), pp. 2056-2064. Date of Electronic Publication: 2021 Apr 21.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.

• Authors : Raggio V; Departamento de Genética, Facultad de Medicina, Universidad de la República, General Flores 2125, 11800, Montevideo, Uruguay.; Dell'Oca N

Subjects: Arterial Occlusive Diseases/Arterial Occlusive Diseases/Arterial Occlusive Diseases/*genetics ; Cell Cycle Proteins/Cell Cycle Proteins/Cell Cycle Proteins/*genetics ; Heart Defects, Congenital/Heart Defects, Congenital/Heart Defects, Congenital/*genetics

• Source: Human genomics [Hum Genomics] 2021 May 10; Vol. 15 (1), pp. 28. Date of Electronic Publication: 2021 May 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364

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Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene.

• Authors : Kjellgren Å; Department of Clinical Sciences, Otorhinolaryngology, University of Umeå, Umeå, Sweden.; Lundgren E

Subjects: LIM-Homeodomain Proteins*/LIM-Homeodomain Proteins*/LIM-Homeodomain Proteins*/genetics ; Transcription Factors*/Transcription Factors*/Transcription Factors*/genetics; Humans

• Source: BMC medical genomics [BMC Med Genomics] 2024 Nov 15; Vol. 17 (1), pp. 270. Date of Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis.

• Authors : Chen X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.; Shen X

Subjects: Homeodomain Proteins*/Homeodomain Proteins*/Homeodomain Proteins*/genetics ; Syndactyly*/Syndactyly*/Syndactyly*/genetics ; Transcription Factors*/Transcription Factors*/Transcription Factors*/genetics Syndactyly, type 2

• Source: BMC medical genomics [BMC Med Genomics] 2024 Oct 29; Vol. 17 (1), pp. 259. Date of Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Disrupting YAP1-mediated glutamine metabolism induces synthetic lethality alongside ODC1 inhibition in osteosarcoma.

• Authors : Wang H; Department of Orthopedics, Shanghai General Hospital, School of Medicine, Shanghai Jiao Tong University, 100 Haining Road, Shanghai, 200080, China.; Shanghai Bone Tumor Institution, Shanghai, China.

Subjects: Osteosarcoma*/Osteosarcoma*/Osteosarcoma*/metabolism ; Osteosarcoma*/Osteosarcoma*/Osteosarcoma*/pathology ; Osteosarcoma*/Osteosarcoma*/Osteosarcoma*/genetics

• Source: Cellular oncology (Dordrecht, Netherlands) [Cell Oncol (Dordr)] 2024 Oct; Vol. 47 (5), pp. 1845-1861. Date of Electronic Publication: 2024 Aug 08.Publisher: Springer Country of Publication: Netherlands NLM ID: 101552938 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Phase separation of PML/RARα and BRD4 coassembled microspeckles governs transcriptional dysregulation in acute promyelocytic leukemia.

• Authors : Zhang Y; Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.; Lou J

Subjects: Leukemia, Promyelocytic, Acute*/Leukemia, Promyelocytic, Acute*/Leukemia, Promyelocytic, Acute*/metabolism ; Leukemia, Promyelocytic, Acute*/Leukemia, Promyelocytic, Acute*/Leukemia, Promyelocytic, Acute*/genetics ; Leukemia, Promyelocytic, Acute*/Leukemia, Promyelocytic, Acute*/Leukemia, Promyelocytic, Acute*/pathology

• Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Aug 20; Vol. 121 (34), pp. e2406519121. Date of Electronic Publication: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet

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De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

• Authors : Huang X; Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Third Clinical Medical College of Ningxia Medical University, Yinchuan, China.; Li H

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Transcription Factors*/Transcription Factors*/Transcription Factors*/genetics ; Face*/Face*/Face*/abnormalities Coffin-Siris syndrome

• Source: BMC medical genomics [BMC Med Genomics] 2024 May 24; Vol. 17 (1), pp. 142. Date of Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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