Di truyền học (Cập nhật đến ngày 3/3/2023)

Di truyền học là một bộ môn sinh học, nghiên cứu về tính di truyền và biến dị ở các sinh vật. Tiền sử, thực tế về việc các sinh vật sống thừa hưởng những đặc tính từ bố mẹ đã được ứng dụng để tăng sản lượng cây trồng và vật nuôi, thông qua quá trình sinh sản chọn lọc hay chọn lọc nhân tạo. Để hiểu rõ hơn Cục Thông tin khoa học và công nghệ quốc gia xin giới thiệu một số bài nghiên cứu đã được xuất bản chính thức và các bài viết được chấp nhận đăng trên những cơ sở dữ liệu học thuật chính thống.

1. Springer

1. Retraction Note: Analyzing genetic diseases using multimedia processing techniques associative decision tree-based learning and Hopfield dynamic neural networks from medical images
Mohammed Al-Maitah in Neural Computing and Applications (2023)
https://link.springer.com/content/pdf/10.1007%2Fs00521-022-08192-3.pdf?pdf=core

2. Interventions addressing genetic disease burdens within selected countries in the MENA region: a scoping review
Madison Grant, Tamar Kabakian-Khasholian, Soha Yazbek in Journal of Community Genetics (2023)
https://link.springer.com/content/pdf/10.1007%2Fs12687-023-00633-3.pdf?pdf=core

3. Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review
Hugo Fournier, Nicolas Calcagni, Fanny Morice-Picard… in Orphanet Journal of Rare Diseases (2023)
https://link.springer.com/content/pdf/10.1186%2Fs13023-023-02629-1.pdf?pdf=core

4. Nonhuman primate genetic models for the study of rare diseases
Eric J. Vallender, Charlotte E. Hotchkiss… in Orphanet Journal of Rare Diseases (2023)
https://link.springer.com/content/pdf/10.1186%2Fs13023-023-02619-3.pdf?pdf=core

5. Non-genetic physicians’ knowledge, attitudes and behavior towards medical genetics
Tea Mladenić, Martina Mavrinac, Sanja Dević Pavlić… in Wiener klinische Wochenschrift (2023)
https://link.springer.com/content/pdf/10.1007%2Fs00508-023-02152-0.pdf?pdf=core

6. CRISPR/Cas9 Mediated Therapeutic Approach in Huntington’s Disease
Suleyman Serdar Alkanli, Nevra Alkanli, Arzu Ay, Isil Albeniz in Molecular Neurobiology (2023)
https://link.springer.com/content/pdf/10.1007%2Fs12035-022-03150-5.pdf?pdf=core

7. Health inequity in genomic personalized medicine in underrepresented populations: a look at the current evidence
Sherouk M. Tawfik, Aliaa A. Elhosseiny, Aya A. Galal… in Functional & Integrative Genomics (2023)
https://link.springer.com/content/pdf/10.1007%2Fs10142-023-00979-4.pdf?pdf=core

2. Sciencedirect

1. Calcium signaling and genetic rare diseases: An auditory perspective
Cell Calcium 5 February 2023 Volume 110 (Cover date: March 2023)  102702
Elodie M. Richard, Tangui Maurice, Benjamin Delprat
https://www.sciencedirect.com/science//pii/S0143416023000143/pdfft?md5=af48af91471f6bee48e45ec9b909bd57&pid=1-s2.0-S0143416023000143-main.pdf
2. Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases
Neuromuscular Disorders 27 December 2022 Volume 33, Issue 3 (Cover date: March 2023) Pages 241-249
Ursula Moore, Sarah Shira Emmons, Michela Guglieri
https://www.sciencedirect.com/science//pii/S0960896622007507/pdfft?md5=7c4508dcea53d03d012f148630eea53e&pid=1-s2.0-S0960896622007507-main.pdf

3. Comparative analysis of genetic diversity, growth performance, disease resistance and expression of growth and immune related genes among five different stocks of Labeo rohita (Hamilton, 1822)
Aquaculture 21 January 2023 Volume 567 (Cover date: 30 March 2023)  739277
Muhammad Kamran, Hafsa Razzaq, Amina Zuberi
https://www.sciencedirect.com/science//pii/S0044848623000509/pdfft?md5=6291cba17e3e1f9d244a7e7d0f075005&pid=1-s2.0-S0044848623000509-main.pdf

4. Common and rare variants of EGF increase the genetic risk of Alzheimer's disease as revealed by targeted sequencing of growth factors in Han Chinese
Neurobiology of Aging 3 November 2022 Volume 123 (Cover date: March 2023) Pages 170-181
Xiao Li, Min Xu, Deng-Feng Zhang
https://www.sciencedirect.com/science//pii/S0197458022002238/pdfft?md5=885f45f3040005dd3ea3ee7414b92a3f&pid=1-s2.0-S0197458022002238-main.pdf

5. High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification
Human Genetics and Genomics Advances 20 October 2022 Volume 4, Issue 1 (Cover date: 12 January 2023)  100156
Scott Mastromatteo, Angela Chen, Lisa J. Strug
https://www.sciencedirect.com/science//pii/S2666247722000732/pdfft?md5=3bbdda99a4079518181654f9f718bed6&pid=1-s2.0-S2666247722000732-main.pdf

6. Prevalence of lymphedema among Anderson-Fabry disease patients: A report from the Fabry registry
Molecular Genetics and Metabolism 8 February 2023 Volume 138, Issue 4 (Cover date: April 2023)  107538
Deya Alkhatib, Jesus Avila Vega, John L. Jefferies
https://www.sciencedirect.com/science//pii/S1096719223001683/pdfft?md5=b7ce8ab538166e9245a05f804ad21d6b&pid=1-s2.0-S1096719223001683-main.pdf

7. Peripheral Interventions in Patients with Pseudoxanthoma Elasticum (PXE)
European Journal of Vascular and Endovascular Surgery 14 August 2022 Volume 65, Issue 1 (Cover date: January 2023) Pages 142-148
Maarten C. Verwer, Constantijn E. V. B. Hazenberg, Gert J. de Borst
https://www.sciencedirect.com/science//pii/S1078588422005123/pdfft?md5=5ac617f8223b3cee7dc9cdc82e438156&pid=1-s2.0-S1078588422005123-main.pdf

8. The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis
Pancreatology 5 December 2022 Volume 23, Issue 1 (Cover date: January 2023) Pages 48-56
Emmanuelle Masson, Maren Ewers, Jian-Min Chen
https://www.sciencedirect.com/science//pii/S1424390322008225/pdfft?md5=10c9f9455da7e3490202e9e098ae0b99&pid=1-s2.0-S1424390322008225-main.pdf

9. Synthetic transmembrane channel molecules formed by acyclic cucurbiturils and pillararene: Tuning cation selectivity and generating membrane potential
Journal of Molecular Liquids 4 January 2023 Volume 372 (Cover date: 15 February 2023)  121198
Panyong Zhu, Lingguang Kong, Bo Yang
https://www.sciencedirect.com/science//pii/S0167732223000016/pdfft?md5=b17e77c8c3faf05ae6770b834df63105&pid=1-s2.0-S0167732223000016-main.pdf

10. A Luciferase Reporter Mouse Model to Optimize In Vivo Gene Editing Validated by Lipid Nanop-Mediated Delivery of Adenine Base Editors
Molecular Therapy Available online 15 February 2023 In press, journal pre-proof
Si-Yue Yu, Tiffany Carlaw, Colin JD. Ross
https://www.sciencedirect.com/science//pii/S1525001623000722/pdfft?md5=c319a2268dcd1d9a59fcb22e85b4fbf8&pid=1-s2.0-S1525001623000722-main.pdf

11. How to choose a test for prenatal genetic diagnosis: a practical overview
American Journal of Obstetrics and Gynecology 24 August 2022 Volume 228, Issue 2 (Cover date: February 2023) Pages 178-186
Teresa N. Sparks, Lorraine Dugoff
https://www.sciencedirect.com/science//pii/S0002937822006810/pdfft?md5=77d3e783599c2e3f17251197f04d9c44&pid=1-s2.0-S0002937822006810-main.pdf

12. Patient's dermal fibrolasts as disease markers for visceral myopathy
Biomaterials Advances Available online 23 February 2023 In press, journal pre-proof  213355
Federica Viti, Francesca Michaela Pramotton, Isabella Ceccherini
https://www.sciencedirect.com/science//pii/S277295082300078X/pdfft?md5=32b5137066875e10293089ba00dec616&pid=1-s2.0-S277295082300078X-main.pdf

13. Advances and Challenges of the Decade: The Ever-Changing Clinical and Genetic Landscape of Immunodeficiency
The Journal of Allergy and Clinical Immunology: In Practice 5 January 2023 Volume 11, Issue 1 (Cover date: January 2023) Pages 107-115
Jolan E. Walter, John B. Ziegler, Charlotte Cunningham-Rundles
https://www.sciencedirect.com/science//pii/S2213219822011989/pdfft?md5=f4a573fce7cdb17caeb85462fbdbe8d4&pid=1-s2.0-S2213219822011989-main.pdf

14. Genome editing in cancer: Challenges and potential opportunities
Bioactive Materials 14 September 2022 Volume 21 (Cover date: March 2023) Pages 394-402
Dor Breier, Dan Peer
https://www.sciencedirect.com/science//pii/S2452199X22003565/pdfft?md5=14f527d1adfcb5ec71e80df54af2083b&pid=1-s2.0-S2452199X22003565-main.pdf

15. Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary
European Journal of Medical Genetics 13 November 2022 Volume 66, Issue 1 (Cover date: January 2023)  104668
Ewelina Bukowska-Olech, Filip Glista, Aleksander Jamsheer
https://www.sciencedirect.com/science//pii/S176972122200249X/pdfft?md5=6217ddd07a432262a0d82624175aabc9&pid=1-s2.0-S176972122200249X-main.pdf

16. Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing
Molecular Therapy - Nucleic Acids Available online 14 February 2023 In press, journal pre-proof
Gayoung Jang, Ha Rim Shin, Beom Hee Lee
https://www.sciencedirect.com/science//pii/S216225312300029X/pdfft?md5=76b4744302c39beb35c77c3b224d7c9d&pid=1-s2.0-S216225312300029X-main.pdf

17. Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study
Experimental Neurology 28 January 2023 Volume 362 (Cover date: April 2023)  114342
Veria Vacchiano, Raffaella Brugnoni, Jean-François Desaphy
https://www.sciencedirect.com/science//pii/S0014488623000262/pdfft?md5=ef754545be7cee1f6c7e9b18e78a9624&pid=1-s2.0-S0014488623000262-main.pdf

18. Genetic correlation and gene-based pleiotropy analysis for four major neurodegenerative diseases with summary statistics
Neurobiology of Aging 31 December 2022 Volume 124 (Cover date: April 2023) Pages 117-128
Jiahao Qiao, Ting Wang, Ping Zeng
https://www.sciencedirect.com/science//pii/S0197458022002755/pdfft?md5=41b8d1fd8a65b57ad13cf589616ed531&pid=1-s2.0-S0197458022002755-main.pdf

19. CRISPR/Cas9-mediated gene editing. A promising strategy in hematological disorders
Cytotherapy 5 January 2023 Volume 25, Issue 3 (Cover date: March 2023) Pages 277-285
Laura Ugalde, Sara Fañanas, Paula Río
https://www.sciencedirect.com/science//pii/S1465324922010520/pdfft?md5=e06e92d53ea4e5108d2de9efd1152b32&pid=1-s2.0-S1465324922010520-main.pdf

20. Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan
European Journal of Medical Genetics 19 November 2022 Volume 66, Issue 1 (Cover date: January 2023)  104667
Midori Kimura, Sawako Matsuzaki, Kiyoko Kato
https://www.sciencedirect.com/science//pii/S1769721222002488/pdfft?md5=eff6510fc90453df0c02f3e80deadf02&pid=1-s2.0-S1769721222002488-main.pdf

21. Urbach-Wiethe disease in a young patient without apparent amygdala calcification
Neuropsychologia 10 February 2023 Volume 183 (Cover date: 3 May 2023)  108505
Hans J. Markowitsch, Angelica Staniloiu, Andreas Wahl-Kordon
https://www.sciencedirect.com/science//pii/S0028393223000398/pdfft?md5=5a9d65978623d78e01838c069dae88ff&pid=1-s2.0-S0028393223000398-main.pdf

22. Dual guide RNA-mediated concurrent C&G-to-T&A and A&T-to-G&C conversions using CRISPR base editors
Computational and Structural Biotechnology Journal 2 January 2023 Volume 21 (Cover date: 2023) Pages 856-868
Yuting Zhao, Min Li, Yunbo Qiao
https://www.sciencedirect.com/science//pii/S2001037022006109/pdfft?md5=3eb7ddf406ce5204e7a4f912c9a839cf&pid=1-s2.0-S2001037022006109-main.pdf

23. In silico analysis of upstream variants in Brazilian patients with Familial hypercholesterolemia
Gene 24 September 2022 Volume 849 (Cover date: 15 January 2023)  146908
Jéssica Nayara Góes de Araújo, Victor Fernandes de Oliveira, Vivian Nogueira Silbiger
https://www.sciencedirect.com/science//pii/S0378111922007284/pdfft?md5=8a75b2ed753a0d6576880354a0cb7fc7&pid=1-s2.0-S0378111922007284-main.pdf

24. Comprehension of premarital screening and genetic disorders among the population of Riyadh
Journal of Taibah University Medical Sciences 19 January 2023 Volume 18, Issue 4 (Cover date: August 2023) Pages 822-830
Shahad AlOtaiby, Abdulhadi Alqahtani, Emad Kutbi
https://www.sciencedirect.com/science//pii/S1658361223000069/pdfft?md5=6686fee40dfb85fc0ae747f59b507112&pid=1-s2.0-S1658361223000069-main.pdf

25. Trio-based exome sequencing broaden the genetic spectrum in keratoconus
Experimental Eye Research 9 December 2022 Volume 226 (Cover date: January 2023)  109342
Liyan Xu, Kaili Yang, Shengwei Ren
https://www.sciencedirect.com/science//pii/S0014483522004237/pdfft?md5=3a0b306f950c66323ccdf09a038e7283&pid=1-s2.0-S0014483522004237-main.pdf

26. Rate of tau propagation is a heritable disease trait in genetically diverse mouse strains
iScience 14 January 2023 Volume 26, Issue 2 (Cover date: 17 February 2023)  105983
Lindsay A. Welikovitch, Simon Dujardin, Bradley T. Hyman
https://www.sciencedirect.com/science//pii/S2589004223000603/pdfft?md5=a559eedb4425b8834ec208e865f7569a&pid=1-s2.0-S2589004223000603-main.pdf

27. Genetic regulation of circular RNA expression in human aortic smooth muscle cells and vascular traits
Human Genetics and Genomics Advances 30 November 2022 Volume 4, Issue 1 (Cover date: 12 January 2023)  100164
Redouane Aherrahrou, Dillon Lue, Mete Civelek
https://www.sciencedirect.com/science//pii/S2666247722000811/pdfft?md5=b2d1db445df4ea8e27af11d07205e7c3&pid=1-s2.0-S2666247722000811-main.pdf

28. In Vitro Delivery of mTOR inhibitors by Kidney-Targeted Micelles for Autosomal Dominant Polycystic Kidney Disease
SLAS Technology Available online 19 February 2023 In press, journal pre-proof
Alysia Cox, Madelynn Tung, Eun Ji Chung
https://www.sciencedirect.com/science//pii/S2472630323000110/pdfft?md5=c69d45a656c97a10d937284c0486e573&pid=1-s2.0-S2472630323000110-main.pdf

29. Genetic analysis of production traits and body size measurements and their relationships with metabolic diseases in German Holstein cattle
Journal of Dairy Science 21 November 2022 Volume 106, Issue 1 (Cover date: January 2023) Pages 421-438
Christin Schmidtmann, Dierck Segelke. Georg Thaller
https://www.sciencedirect.com/science//pii/S0022030222006828/pdfft?md5=2aab5d0613e11dab2ec2171358f24939&pid=1-s2.0-S0022030222006828-main.pdf

30. De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome
Gene 27 January 2023 Volume 860 (Cover date: 15 April 2023)  147229
Xiaoting Lou, Yuwei Zhou, Jianxin Lyu
https://www.sciencedirect.com/science//pii/S0378111923000707/pdfft?md5=6715059be1ee4c124dd60b6fd35536b0&pid=1-s2.0-S0378111923000707-main.pdf

31. Addressing Modern Diagnostic Pathology for Patient-Derived Soft Tissue Sarcosphere Models in the Era of Functional Precision Oncology
Laboratory Investigation 10 January 2023 Volume 103, Issue 4 (Cover date: April 2023)  100039
Yanjiang Chen, Marius Herzog, Chantal Pauli
https://www.sciencedirect.com/science//pii/S0023683722031981/pdfft?md5=4e38708b6c5b5616fdad3c45a3f18a56&pid=1-s2.0-S0023683722031981-main.pdf

32. The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism
Cell GenomicsAvailable online 6 February 2023In press, corrected proof 100261
Elisangela BressanXylena ReedCornelis Blauwendraat
https://www.sciencedirect.com/science//pii/S2666979X23000174/pdfft?md5=55b000c4f6b5110d7180810dfe560e1a&pid=1-s2.0-S2666979X23000174-main.pdf

33. MGREL: A multi-graph representation learning-based ensemble learning method for gene-disease association prediction
Computers in Biology and Medicine10 February 2023Volume 155 (Cover date: March 2023) 106642
Ziyang WangYaowen GuJiao Li
https://www.sciencedirect.com/science//pii/S0010482523001075/pdfft?md5=69e88bfd430d38ba42170d2432509265&pid=1-s2.0-S0010482523001075-main.pdf

34. Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe
Cell Genomics13 January 2023Volume 3, Issue 2 (Cover date: 8 February 2023) 100248
Gaspard KernerAnna-Lena NeehusLluis Quintana-Murci
https://www.sciencedirect.com/science//pii/S2666979X22002117/pdfft?md5=7eaa14bcf3598a8a4957d1a49c3869b4&pid=1-s2.0-S2666979X22002117-main.pdf

35. Establishment of isogenic induced pluripotent stem cells with or without pathogenic mutation for understanding the pathogenesis of myeloproliferative neoplasms
Experimental Hematology26 November 2022Volume 118 (Cover date: February 2023)Pages 12-20
Chang LiuMisa ImaiNorio Komatsu
https://www.sciencedirect.com/science//pii/S0301472X22008098/pdfft?md5=81f0ab0fc6a40738871fa68a81ee74b0&pid=1-s2.0-S0301472X22008098-main.pdf

36. Lipid nanop-based ribonucleoprotein delivery for in vivo genome editing
Journal of Controlled Release10 February 2023Volume 355 (Cover date: March 2023)Pages 406-416
Haruno OnumaYusuke SatoHideyoshi Harashima
https://www.sciencedirect.com/science//pii/S0168365923001025/pdfft?md5=6ea1c8e40a3fb8aed7a9e372c012b862&pid=1-s2.0-S0168365923001025-main.pdf

37. Genetic and genomic analyses of resistance to yersiniosis in Atlantic salmon (Salmo salar) assessed by tank challenge
Aquaculture20 November 2022Volume 564 (Cover date: 15 February 2023) 739088
Richard S. TaylorRoberto CarvalheiroHarry King
https://www.sciencedirect.com/science//pii/S0044848622012054/pdfft?md5=627f2540fba7d667713d8be55eb41ca0&pid=1-s2.0-S0044848622012054-main.pdf

38. SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease
Gene16 February 2023Volume 863 (Cover date: 5 May 2023) 147264
Yash P PatelSamir G PatelMahesh R Desai
https://www.sciencedirect.com/science//pii/S0378111923001051/pdfft?md5=a77c8d3064ab48bcd73c95ae6cf03376&pid=1-s2.0-S0378111923001051-main.pdf

39. Evaluation of an educational conference for persons affected by hereditary frontotemporal degeneration and amyotrophic lateral sclerosis
PEC Innovation24 November 2022Volume 2 (Cover date: December 2023) 100108
Laynie DratchWeiyi MuKatheryn A. Q. Cousins
https://www.sciencedirect.com/science//pii/S2772628222000930/pdfft?md5=e89a750deb9366d09fc8d0f921bae511&pid=1-s2.0-S2772628222000930-main.pdf

40. Exploring genetic influences on adverse outcome pathways using heuristic simulation and graph data science
Computational Toxicology25 January 2023Volume 25 (Cover date: February 2023) 100261
Joseph D. RomanoLiang MeiHolly M. Mortensen
https://www.sciencedirect.com/science//pii/S2468111323000026/pdfft?md5=65d41a0071d3ffccebb6ebd8f248933a&pid=1-s2.0-S2468111323000026-main.pdf

41. Awareness and utilization of genetic testing among Hispanic and Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos
Human Genetics and Genomics Advances19 November 2022Volume 4, Issue 1 (Cover date: 12 January 2023) 100160
Kurt D. ChristensenMengran ZhangTamar Sofer
https://www.sciencedirect.com/science//pii/S266624772200077X/pdfft?md5=4c8060b3d578b7ed85af64029170ce53&pid=1-s2.0-S266624772200077X-main.pdf

Nguồn: Cục Thông tin khoa học và công nghệ quốc gia, 3/3/2023