NSTL国家科技图书文献中心

1. A case of X-Linked adrenoleukodystrophy caused by a novel mutation with singular clinical manifestation: unilateral lower limb weakness NSTL国家科技图书文献中心

Zhu, Geke | Zhou, Han ... - 《Neurological sciences》 - 2025,46(1) - 473～477 - 共5页

摘要： indicated a novel* missense mutation.* | X-linked adrenoleukodystrophy (X-ALD) is | caused by mutations in the ABCD1 gene, leading to the | accumulation of very long-chain fatty acids (VLCFAs) in | plasma and tissues. It primarily affects the central

关键词： X-linked adrenoleukodystrophy | Very long-chain fatty acids | ABCD1 gene | Myeloneuropathy | Novel mutation

2. Novel mutation of transferrin receptor 2 causing hereditary hemochromatosis type 3 in a Japanese patient NSTL国家科技图书文献中心

Tamai, Yasuyuki | Hosotani, Masami ... - 《Hepatology research》 - 2025,55(1) - 155～160 - 共6页

摘要： homozygous novel* mutation, c.1337G>A (p.G446E), in the TFR2* | Japanese patient with HH type 3, with a novel* homozygous* | mutation of the TFR2 gene. A 69-year-old woman presented | Genetics and Genomics guideline, the mutation* was* | mutation, c.1337G>A (p.G446E), in the TFR2 gene in

关键词： hemochromatosis | hereditary hemochromatosis | iron | transferrin receptor 2

3. Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II) NSTL国家科技图书文献中心

Elika Esmaeilzadeh,G... | Elina,Smiley ... - 《Metabolic brain disease》 - 2025,40(1) - Article: 18～Article: 18 - 共8页

摘要： primordial dwarfism (PD) subtypes, mutation* analysis is* | novel homozygous copy number variation (CNV) in Case 3 | . Reporting a novel* deletion in the PCNT gene improves* | Abstract A rare type of autosomal recessive | skeletal disorder, known as microcephalic osteodysplastic

关键词： Microcephalic osteodysplastic primordial dwarfism type II | PCNT gene | Homozygous copy number | Whole-exome sequencing | Sanger sequencing | GAP-PCR

4. A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits NSTL国家科技图书文献中心

Lacey B. Sell | Carson Zabel ... - 《Journal of Neuroscience Research》 - 2025,103(4) - e70040～e70040 - 共21页

摘要： importance of a novel* human CNTNAP1 likely pathogenic* | CNTNAP1 encodes the contactin-associated | protein 1 (Cntnap1) which localizes to the paranodal | region in all myelinated axons and is essential for | axonal domain organization and the propagation of

关键词： congenital hypomyelinating neuropathy type 3; human CNTNAP1 variant; hypomyelination

5. A novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia NSTL国家科技图书文献中心

Meng, Xiaolu | Chen, Xinyuan ... - 《Gene》 - 2025,933 - 149012～149012 - 共7页

摘要： reported a novel* de novo KCTD1 mutation in a Chinese* | clinical presentations. The identified mutation* in the* | Microtia is a common birth defect affecting | the external ears and encompasses a spectrum of | congenital anomalies of the auricle. For some of the

关键词： Congenital microtia | Molecular genetics | KCTD1 gene | SEN syndrome

6. A novel mutation in SoIAA20 confers cross-resistance to 2,4-Dichlorophenoxyacetic acid and other auxinic herbicides in Sonchus oleraceus NSTL国家科技图书文献中心

Krishnan, Mahima | Petrovic, Tijana ... - 《Pest Management Science》 - 2025,81(1) - 141～148 - 共8页

摘要：BACKGROUND: 2,4-Dichlorophenoxyacetic acid | (2,4-D) and other auxinic herbicides are important | for weed control in cropping systems globally. Weeds | with resistance to 2,4-D and other auxinic herbicides | have evolved, including several populations of

关键词： 2,4-D resistance | Aux/IAA | degron mutation | reduced herbicide translocation | 2,4‐D resistance

7. Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation NSTL国家科技图书文献中心

He, Li | Zhu, Guannan - 《Genes and genomics》 - 2025,47(1) - 1～10 - 共10页

摘要： observed.ConclusionThis study was the first to report a novel mutation | Chinese female patient with SPPK caused by a novel* DSG1* | gene mutation, along with her family history, and | mutation, which was validated by Sanger sequencing | tissue.of skin tissue.ResultsA frameshift mutation, c

关键词： Striate palmoplantar keratoderma | DSG1 gene mutation | Desmoglein-1 gene | LDLR gene splicing variant

8. Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene NSTL国家科技图书文献中心

Galota, Federica | Di Rauso, Giulia ... - 《Neurological sciences》 - 2025,46(1) - 469～472 - 共4页

摘要：, reporting a novel* likely pathogenic SETX mutation (c.6208* | sequencing was performed revealing a novel* biallelic* | BackgroundAtaxia with oculomotor apraxia type | 2 (AOA2) is an autosomal recessive disorder | presenting with cerebellar ataxia, sensory-motor axonal

关键词： SETX | AOA2 | Obsessive-compulsive disorder | Whole-exome sequencing | Ataxia

9. Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation NSTL国家科技图书文献中心

Sossamon, Jake | O'Connell, Patrick ... - 《The cerebellum》 - 2025,24(1) - Article: 25～Article: 25 - 共6页

摘要： identified a novel* mutation in the DNA methyltransferase 1* | A 50-year-old woman with a 20-year history of | gait instability presented with new-onset vertigo and | oscillopsia. Examination revealed bilateral vestibular loss | , cerebellar ataxia, sensory neuropathy, a "yes-yes" head

关键词： Cerebellar ataxia | Peripheral neuropathy | Vestibular dysfunction | CANVAS | DNMT1

10. Severe Darier's Disease by Mitochondrial DNA Insertion Causing Nonsense Mutations: In Silico Prediction of a Pathophysiological Mechanism to a Novel Mutation NSTL国家科技图书文献中心

Shintani, Haruna | Ikuno, Yasuaki ... - 《Experimental dermatology.》 - 2025,34(3) - e70070～e70070 - 共6页

摘要： severe DD caused by a nonsense mutation* with a* | Darier's disease (DD) is an autosomal dominant | genetic disorder caused by mutations in ATP2A2. Several | cases with nonsense ATP2A2 mutations presented mild-to | -moderate phenotypes despite the presumed larger deletion

关键词： AlphaFold | Darier's disease | G-quadruplexes | in silico analysis | mitochondrial DNA insertion | non-B DNA structure | ATP2A2 | G‐quadruplexes | non‐B DNA structure

摘要： indicated a novel missense mutation. | X-linked adrenoleukodystrophy (X-ALD) is | caused by mutations in the ABCD1 gene, leading to the | accumulation of very long-chain fatty acids (VLCFAs) in | plasma and tissues. It primarily affects the central

关键词： X-linked adrenoleukodystrophy | Very long-chain fatty acids | ABCD1 gene | Myeloneuropathy | Novel mutation

摘要： homozygous novel mutation, c.1337G>A (p.G446E), in the TFR2 | Japanese patient with HH type 3, with a novel homozygous | mutation of the TFR2 gene. A 69-year-old woman presented | Genetics and Genomics guideline, the mutation was | mutation, c.1337G>A (p.G446E), in the TFR2 gene in

关键词： hemochromatosis | hereditary hemochromatosis | iron | transferrin receptor 2

摘要： primordial dwarfism (PD) subtypes, mutation analysis is | novel homozygous copy number variation (CNV) in Case 3 | . Reporting a novel deletion in the PCNT gene improves | Abstract A rare type of autosomal recessive | skeletal disorder, known as microcephalic osteodysplastic

关键词： Microcephalic osteodysplastic primordial dwarfism type II | PCNT gene | Homozygous copy number | Whole-exome sequencing | Sanger sequencing | GAP-PCR

摘要： importance of a novel human CNTNAP1 likely pathogenic | CNTNAP1 encodes the contactin-associated | protein 1 (Cntnap1) which localizes to the paranodal | region in all myelinated axons and is essential for | axonal domain organization and the propagation of

关键词： congenital hypomyelinating neuropathy type 3; human CNTNAP1 variant; hypomyelination

摘要： reported a novel de novo KCTD1 mutation in a Chinese | clinical presentations. The identified mutation in the | Microtia is a common birth defect affecting | the external ears and encompasses a spectrum of | congenital anomalies of the auricle. For some of the