نتائج البحث

Endoplasmic Reticulum Proteins Impact Penetrance in a Pink1 -Mutant Drosophila Model.

• Authors : Vos M; Institute of Neurogenetics, University of Luebeck, UKSH (Universitätsklinikum Schleswig-Holstein, Campus Lübeck), Ratzeburger Allee 160, Building 67 (BMF), 23562 Luebeck, Germany.; Ott F

Subjects: Drosophila Proteins*/Drosophila Proteins*/Drosophila Proteins*/genetics ; Drosophila Proteins*/Drosophila Proteins*/Drosophila Proteins*/metabolism ; Drosophila melanogaster*/Drosophila melanogaster*/Drosophila melanogaster*/genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2025 Jan 24; Vol. 26 (3). Date of Electronic Publication: 2025 Jan 24.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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Quality-of-Life Assessment in Patients Undergoing Mastectomy and Breast Reconstruction for Moderate-Penetrance Gene-Related Breast Cancer.

• Authors : Cătană, Andreea^1,2,3 (AUTHOR) ; Iordănescu, Irina⁴ (AUTHOR) ; Filip, Gheorghe Gerald⁵ (AUTHOR)

• Source: Journal of Clinical Medicine. Feb2025, Vol. 14 Issue 4, p1140. 27p.

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Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

• Authors : Szuman M; Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479 Poznań, Poland.; Kaczmarek-Ryś M

Subjects: Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/genetics ; Genetic Predisposition to Disease* ; Penetrance*

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 30; Vol. 25 (15). Date of Electronic Publication: 2024 Jul 30.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.

• Authors : Gallego-Delgado M; Department of Cardiology, CSUR Cardiopatías Familiares, Institute of Biomedical Research of Salamanca (IBSAL), Complejo Asistencial Universitario de Salamanca, Gerencia Regional de Salud de Castilla y León (SACYL), 37007 Salamaca, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.

Subjects: NAV1.5 Voltage-Gated Sodium Channel*/NAV1.5 Voltage-Gated Sodium Channel*/NAV1.5 Voltage-Gated Sodium Channel*/genetics ; NAV1.5 Voltage-Gated Sodium Channel*/NAV1.5 Voltage-Gated Sodium Channel*/NAV1.5 Voltage-Gated Sodium Channel*/metabolism ; Penetrance*

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 25; Vol. 25 (9). Date of Electronic Publication: 2024 Apr 25.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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Advances in the Repurposing and Blood–Brain Barrier Penetrance of Drugs in Pediatric Brain Tumors.

• Authors : Rechberger, Julian S.¹ (AUTHOR) ; Toll, Stephanie A.² (AUTHOR) ; Biswas, Subhasree³ (AUTHOR)

• Source: Cancers. Feb2025, Vol. 17 Issue 3, p439. 34p.

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Changes in Skin Cancer-Related Behaviors, Distress, and Beliefs in Response to Receipt of Low- to Moderate-Penetrance Genetic Test Results for Skin Cancer Risk.

• Authors : Khadka, Monica¹ (AUTHOR) ; Lacson, John Charles A.² (AUTHOR); Sutton, Steven K.³ (AUTHOR)

• Source: Cancers. Dec2024, Vol. 16 Issue 23, p4027. 13p.

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Molecular Modeling and In Vitro Functional Analysis of the RGS12 PDZ Domain Variant Associated with High-Penetrance Familial Bipolar Disorder.

• Authors : Agogo-Mawuli, Percy S.¹ (AUTHOR) ; Mendez, Joseph¹ (AUTHOR); Oestreich, Emily A.² (AUTHOR)

Subjects: *SURFACE plasmon resonance; *OPIOID receptors; *LIGAND binding (Biochemistry)

• Source: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 21, p11431. 28p.

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

• Authors : Hitti-Malin, Rebekkah J.; Panneman, Daan M.; Corradi, Zelia ...

Subjects: maculopathies; macula; retinal

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Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome.

• Authors : Winarni, Tri Indah¹ (AUTHOR) ; Hwang, Ye Hyun² (AUTHOR) ; Rivera, Susan M.^3,4 (AUTHOR)

Subjects: *GENETIC variation; *ALLELES; *GENOTYPES

• Source: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8103. 13p.

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

• Authors : Hitti-Malin, Rebekkah J.¹ (AUTHOR) ; Panneman, Daan M.¹ (AUTHOR); Corradi, Zelia¹ (AUTHOR)

• Source: Biomolecules (2218-273X). Mar2024, Vol. 14 Issue 3, p367. 20p.

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