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Academic Journal

Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Authors : Liang, Xiongda¹ (AUTHOR); Si, Jiameng¹ (AUTHOR); Xie, Hongting¹ (AUTHOR)

Subjects: *LIMB-girdle muscular dystrophy; *MISSENSE mutation; *UBIQUITIN ligases

Source: Acta Neuropathologica Communications. 3/4/2025, Vol. 13 Issue 1, p1-13. 13p.

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Academic Journal

Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.

Authors : Dong, Meihua¹ (AUTHOR); Shi, Xu¹ (AUTHOR); Zhou, Yawen¹ (AUTHOR)

Subjects: *CILIOPATHY; *GENETIC variation; *SYMPTOMS

Source: Orphanet Journal of Rare Diseases. 3/3/2025, Vol. 20 Issue 1, p1-13. 13p.

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Academic Journal

The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.

Authors : Allegri, Beatrice¹ (AUTHOR); Ajmone, Paola Francesca¹ (AUTHOR) ; Michelini, Giovanni² (AUTHOR)

Subjects: *AUTISM risk factors; *BEHAVIORAL assessment; *COMMUNICATIVE competenceITALY

Source: Italian Journal of Pediatrics. 2/25/2025, Vol. 51 Issue 1, p1-10. 10p.

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Academic Journal

VPS13D-related disorders: a severe case, review, and genotype–phenotype correlation.

Authors : Liu, Wei-Liang¹ (AUTHOR) ; Li, Fang¹ (AUTHOR)

Subjects: *GENETIC disorders; *MOVEMENT disorders; *TEMPORAL lobe

Source: Neurocase (Taylor & Francis Ltd). Jan2025, p1-5. 5p. 4 Illustrations.

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Academic Journal

CSGDN: contrastive signed graph diffusion network for predicting crop gene–phenotype associations.

Authors : Pan, Yiru¹ (AUTHOR); Ji, Xingyu¹ (AUTHOR); You, Jiaqi¹ (AUTHOR)

Subjects: *GRAPH neural networks; *EMMER wheat; *BIPARTITE graphs

Source: Briefings in Bioinformatics. Jan2025, Vol. 26 Issue 1, p1-16. 16p.

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Academic Journal

Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype–Genotype Correlation.

Authors : Olivas-Valdez, Marco A.¹ (AUTHOR) ; Blanco-López, Armando² (AUTHOR) ; Velázquez-Arestegui, Daniela² (AUTHOR)

Subjects: *PHENOTYPIC plasticity; *SHORT stature; *ALKALINE phosphatase

Source: Diagnostics (2075-4418). Jan2025, Vol. 15 Issue 1, p91. 13p.

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Academic Journal

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.

Authors : Fan, Xue¹ (AUTHOR); Li, Zhen² (AUTHOR); Sha, Lingzhi¹ (AUTHOR)

Subjects: *GENETIC engineering; *MEDICAL genetics; *GENETIC testing

Source: Scientific Reports. 1/24/2025, Vol. 15 Issue 1, p1-16. 16p.

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Academic Journal

Halogenated Boroxine K 2 [B 3 O 3 F 4 OH] Modulates Metabolic Phenotype and Autophagy in Human Bladder Carcinoma 5637 Cell Line.

Authors : Elez-Burnjaković, Nikolina¹ (AUTHOR) ; Pojskić, Lejla² (AUTHOR) ; Haverić, Anja² (AUTHOR)

Subjects: *HUMAN phenotype; *CELL lines; *BLADDER

Source: Molecules. Jun2024, Vol. 29 Issue 12, p2919. 14p.

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Academic Journal

scPAS: single-cell phenotype-associated subpopulation identifier.

Authors : Xie, Aimin¹ (AUTHOR); Wang, Hao¹ (AUTHOR); Zhao, Jiaxu¹ (AUTHOR)

Subjects: *TRANSCRIPTOMES; *DATA integration; *PHENOTYPES

Source: Briefings in Bioinformatics. Jan2025, Vol. 26 Issue 1, p1-12. 12p.

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Academic Journal

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.

Authors : Domínguez-Ruiz, María^1,2 (AUTHOR); Murillo-Cuesta, Silvia^2,3,4 (AUTHOR); Contreras, Julio^2,3,5 (AUTHOR)

Subjects: *HEARING disorders; *HUMAN phenotype; *GENE expression

Source: BMC Genomics. 4/11/2024, Vol. 25 Issue 1, p1-14. 14p.

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Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.

The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.

VPS13D-related disorders: a severe case, review, and genotype–phenotype correlation.

CSGDN: contrastive signed graph diffusion network for predicting crop gene–phenotype associations.

Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype–Genotype Correlation.

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.

Halogenated Boroxine K 2 [B 3 O 3 F 4 OH] Modulates Metabolic Phenotype and Autophagy in Human Bladder Carcinoma 5637 Cell Line.

scPAS: single-cell phenotype-associated subpopulation identifier.

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.

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