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Academic Journal

m6A-modified circXPO1 accelerates colorectal cancer progression via interaction with FMRP to promote WWC2 mRNA decay.

  • Authors : Zhu X; Key laboratory of Microecology-immune Regulatory Network and Related Diseases, School of Basic Medicine, Jiamusi University, No. 258 Xuefu Road, Xiangyang District, Jiamusi, 154000, Heilongjiang Province, P. R. China.; General surgery, The first Affiliated Hospital of Jiamusi University, Jiamusi, 154000, Heilongjiang Province, P. R. China.

Subjects: Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/genetics ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/pathology ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/metabolism

  • Source: Journal of translational medicine [J Transl Med] 2024 Oct 14; Vol. 22 (1), pp. 931. Date of Electronic Publication: 2024 Oct 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium:

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Academic Journal

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.

  • Authors : Montanaro FAM; Child & Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, 00165, Italy.; Department of Education, Psychology, Communication, University of Bari Aldo Moro, Bari, 70122, Italy.

Subjects: Fragile X Syndrome*/Fragile X Syndrome*/Fragile X Syndrome*/genetics ; Fragile X Syndrome*/Fragile X Syndrome*/Fragile X Syndrome*/therapy ; Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/geneticsFragile X Tremor Ataxia Syndrome

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 12; Vol. 19 (1), pp. 264. Date of Electronic Publication: 2024 Jul 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.

  • Authors : Rodrigues B; Molecular Genetics Laboratory, Laboratory Genetics Service, Genetics and Pathology Clinic, Unidade Local de Saúde de Santo António (ULSSA), Porto, Portugal.; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal.

Subjects: Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/genetics ; Amenorrhea*/Amenorrhea*/Amenorrhea*/genetics ; Alleles*

  • Source: Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2024 Jun 21; Vol. 22 (1), pp. 71. Date of Electronic Publication: 2024 Jun 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101153627 Publication Model: Electronic Cited Medium:

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Academic Journal

Genetic analysis of a pedigree with MECP2 duplication syndrome in China.

  • Authors : Zeng L; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.; Zhu H

Subjects: DNA Copy Number Variations* ; Gene Duplication* ; Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/geneticsLubs X-linked mental retardation syndrome

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Feb 19; Vol. 17 (1), pp. 54. Date of Electronic Publication: 2024 Feb 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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Academic Journal

Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome.

  • Authors : Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Blue Bird Circle Rett Center, Texas Children's Hospital, Houston, TX, 77030, USA. .

Subjects: Parents* ; Mental Retardation, X-Linked*; Humans Lubs X-linked mental retardation syndrome

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 09; Vol. 19 (1), pp. 52. Date of Electronic Publication: 2024 Feb 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.

  • Authors : Guillén-Yunta M; Laboratory of Thyroid Hormones and CNS, Department of Endocrine and Nervous System Pathophysiology, Instituto de Investigaciones Biomédicas 'Alberto-Sols', Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), C/ Arturo Duperier 4, 28029, Madrid, Spain.; Valcárcel-Hernández V

Subjects: Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/diagnosis ; Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/genetics ; Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/pathology Allan-Herndon-Dudley syndrome

  • Source: Fluids and barriers of the CNS [Fluids Barriers CNS] 2023 Nov 03; Vol. 20 (1), pp. 79. Date of Electronic Publication: 2023 Nov 03.Publisher: Biomed Central Country of Publication: England NLM ID: 101553157 Publication Model: Electronic Cited Medium:

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Academic Journal

An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report.

  • Authors : Liang J; Department of Pediatric, Neurology of Jilin University, 1 Xinmin Street, Changchun, 130000, Jilin Province, China.; Jilin Provincial Key Laboratory of Pediatric Neurology, Changchun, China.

Subjects: Brain Diseases*/Brain Diseases*/Brain Diseases*/genetics ; Dyskinesias*/Dyskinesias*/Dyskinesias*/genetics ; Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/genetics

  • Source: BMC medical genomics [BMC Med Genomics] 2023 Aug 03; Vol. 16 (1), pp. 181. Date of Electronic Publication: 2023 Aug 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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Academic Journal

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.

  • Authors : Akahoshi K; Department of Pediatrics, Tokyo Children's Rehabilitation Hospital, 4-10-1 Gakuen, Musashi-Murayama, Tokyo, 208-0011, Japan. .; Nakagawa E

Subjects: Intellectual Disability* ; Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/genetics; Male Lubs X-linked mental retardation syndrome

  • Source: BMC medical genomics [BMC Med Genomics] 2023 Mar 06; Vol. 16 (1), pp. 43. Date of Electronic Publication: 2023 Mar 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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Academic Journal

A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype.

  • Authors : Shen R; Child Health Care Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.; Li Y

Subjects: Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/genetics; Male ; Female

  • Source: BMC neurology [BMC Neurol] 2022 Dec 19; Vol. 22 (1), pp. 491. Date of Electronic Publication: 2022 Dec 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium:

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Academic Journal

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report.

  • Authors : Zhong S; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.; Liu J

Subjects: Ataxia*/Ataxia*/Ataxia*/diagnosis ; Ataxia*/Ataxia*/Ataxia*/genetics ; Encephalitis*/Encephalitis*/Encephalitis*/diagnosis Fragile X Tremor Ataxia Syndrome; Neuronal intranuclear inclusion disease

  • Source: BMC neurology [BMC Neurol] 2024 May 07; Vol. 24 (1), pp. 154. Date of Electronic Publication: 2024 May 07.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium:

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