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  1. Article ; Online: The UBE2J2/UBE2K-MARCH5 ubiquitination machinery regulates apoptosis in response to venetoclax in acute myeloid leukemia.

    Lin, Shan / Schneider, Constanze / Su, Angela H / Alexe, Gabriela / Root, David E / Stegmaier, Kimberly

    Leukemia

    2024  Volume 38, Issue 3, Page(s) 652–656

    MeSH term(s) Humans ; Leukemia, Myeloid, Acute/drug therapy ; Bridged Bicyclo Compounds, Heterocyclic/pharmacology ; Ubiquitination ; Apoptosis ; Proto-Oncogene Proteins c-bcl-2/metabolism ; Ubiquitin-Conjugating Enzymes ; Sulfonamides
    Chemical Substances venetoclax (N54AIC43PW) ; Bridged Bicyclo Compounds, Heterocyclic ; Proto-Oncogene Proteins c-bcl-2 ; UBE2K protein, human (EC 2.3.2.23) ; Ubiquitin-Conjugating Enzymes (EC 2.3.2.23) ; UBE2J2 protein, human (EC 2.3.2.23) ; Sulfonamides
    Language English
    Publishing date 2024-02-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 807030-1
    ISSN 1476-5551 ; 0887-6924
    ISSN (online) 1476-5551
    ISSN 0887-6924
    DOI 10.1038/s41375-024-02178-x
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2295: Show issues Location:
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  2. Article ; Online: Depiction of ectrodactyly, sirenomelia and cyclopia in a figure by Hokusai.

    Lin, Angela E / Jalali, Mitcheka

    American journal of medical genetics. Part C, Seminars in medical genetics

    2020  Volume 187, Issue 2, Page(s) 148–150

    MeSH term(s) Ectromelia/genetics ; Holoprosencephaly ; Humans ; Limb Deformities, Congenital/genetics
    Language English
    Publishing date 2020-11-02
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31850
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    Zs.A 1376/C: Show issues Location:
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  3. Article ; Online: Correspondence on "Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)" by Deignan, et al.

    Alkuraya, Fowzan S / Gray, Kathryn J / Prakash, Siddharth K / Wojcik, Monica H / Lin, Angela E

    Genetics in medicine : official journal of the American College of Medical Genetics

    2023  Volume 25, Issue 10, Page(s) 100904

    Language English
    Publishing date 2023-06-29
    Publishing country United States
    Document type Letter
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.100904
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    Zs.A 5059: Show issues Location:
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  4. Article ; Online: Case 27-2023: A 53-Year-Old Woman with Celiac Disease and Upper Gastrointestinal Bleeding.

    Hashemi, Nikroo / Lopes, Emily W / Dhami, Ranjodh S / Lin, Angela E / Moodley, Jinesa

    The New England journal of medicine

    2023  Volume 389, Issue 9, Page(s) 840–851

    MeSH term(s) Female ; Humans ; Middle Aged ; Celiac Disease/complications ; Celiac Disease/diagnosis ; Gastrointestinal Hemorrhage/etiology
    Language English
    Publishing date 2023-08-31
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMcpc2300903
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  5. Article ; Online: Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme.

    Lin, Angela E / Murali, Chaya N / Neri, Giovanni

    American journal of medical genetics. Part C, Seminars in medical genetics

    2021  Volume 187, Issue 2, Page(s) 107–110

    MeSH term(s) Congenital Abnormalities/genetics ; Humans ; Reproductive Techniques, Assisted ; Risk Factors ; Syndrome
    Language English
    Publishing date 2021-05-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31913
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/C: Show issues Location:
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  6. Article ; Online: The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth.

    Heyne, Thomas F / Neri, Giovanni / Lin, Angela E

    American journal of medical genetics. Part C, Seminars in medical genetics

    2021  Volume 187, Issue 2, Page(s) 168–172

    Abstract: We report two prints (a woodcut from the 17th century and an engraving from the 18th century) that likely show individuals with PIK3CA-Related Overgrowth Spectrum (PROS). These prints are likely the earliest known depictions of this complex condition. ...

    Abstract We report two prints (a woodcut from the 17th century and an engraving from the 18th century) that likely show individuals with PIK3CA-Related Overgrowth Spectrum (PROS). These prints are likely the earliest known depictions of this complex condition.
    MeSH term(s) Class I Phosphatidylinositol 3-Kinases/genetics ; Female ; Humans ; Mutation
    Chemical Substances Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137) ; PIK3CA protein, human (EC 2.7.1.137)
    Language English
    Publishing date 2021-05-13
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31892
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  7. Article ; Online: Engineering of an Osteoinductive and Growth Factor-Free Injectable Bone-Like Microgel for Bone Regeneration.

    Subbiah, Ramesh / Lin, Edith Y / Athirasala, Avathamsa / Romanowicz, Genevieve E / Lin, Angela S P / Califano, Joseph V / Guldberg, Robert E / Bertassoni, Luiz E

    Advanced healthcare materials

    2023  Volume 12, Issue 11, Page(s) e2200976

    Abstract: Bone autografts remain the gold standard for bone grafting surgeries despite having increased donor site morbidity and limited availability. Bone morphogenetic protein-loaded grafts represent another successful commercial alternative. However, the ... ...

    Abstract Bone autografts remain the gold standard for bone grafting surgeries despite having increased donor site morbidity and limited availability. Bone morphogenetic protein-loaded grafts represent another successful commercial alternative. However, the therapeutic use of recombinant growth factors has been associated with significant adverse clinical outcomes. This highlights the need to develop biomaterials that closely approximate the structure and composition of bone autografts, which are inherently osteoinductive and biologically active with embedded living cells, without the need for added supplements. Here, injectable growth factor-free bone-like tissue constructs are developed, that closely approximate the cellular, structural, and chemical composition of bone autografts. It is demonstrated that these micro-constructs are inherently osteogenic, and demonstrate the ability to stimulate mineralized tissue formation and regenerate bone in critical-sized defects in-vivo. Furthermore, the mechanisms that allow human mesenchymal stem cells (hMSCs) to be highly osteogenic in these constructs, despite the lack of osteoinductive supplements, are assessed, whereby Yes activated protein (YAP) nuclear localization and adenosine signaling appear to regulate osteogenic cell differentiation. The findings represent a step toward a new class of minimally invasive, injectable, and inherently osteoinductive scaffolds, which are regenerative by virtue of their ability to mimic the tissue cellular and extracellular microenvironment, thus showing promise for clinical applications in regenerative engineering.
    MeSH term(s) Humans ; Microgels ; Bone Regeneration/physiology ; Osteogenesis/physiology ; Bone and Bones ; Biocompatible Materials/chemistry ; Cell Differentiation/physiology ; Tissue Engineering ; Tissue Scaffolds/chemistry
    Chemical Substances Microgels ; Biocompatible Materials
    Language English
    Publishing date 2023-03-07
    Publishing country Germany
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2649576-4
    ISSN 2192-2659 ; 2192-2640
    ISSN (online) 2192-2659
    ISSN 2192-2640
    DOI 10.1002/adhm.202200976
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    Zs.A 6966: Show issues Location:
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  8. Article: Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses

    Blanton, Laura V / San Roman, Adrianna K / Wood, Geryl / Buscetta, Ashley / Banks, Nicole / Skaletsky, Helen / Godfrey, Alexander K / Pham, Thao T / Hughes, Jennifer F / Brown, Laura G / Kruszka, Paul / Lin, Angela E / Kastner, Daniel L / Muenke, Maximilian / Page, David C

    bioRxiv : the preprint server for biology

    2024  

    Abstract: ... ...

    Abstract Recent
    Language English
    Publishing date 2024-03-19
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.03.18.585578
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy.

    Falsey, Erin / Cirino, Allison L / Snyder, Emma / Steeves, Marcie / Lin, Angela E

    Journal of community genetics

    2022  Volume 13, Issue 3, Page(s) 263–270

    Abstract: Choosing a route to parenthood can be a difficult decision for individuals with Turner syndrome, who must consider the unlikely possibility of spontaneous pregnancy, the potential need for assisted reproductive technology such as in vitro fertilization ( ... ...

    Abstract Choosing a route to parenthood can be a difficult decision for individuals with Turner syndrome, who must consider the unlikely possibility of spontaneous pregnancy, the potential need for assisted reproductive technology such as in vitro fertilization (IVF), and the risks of pregnancy-related complications. In addition, there are other options for parenthood, such as surrogacy and adoption. The perspectives of individuals with Turner syndrome regarding routes to parenthood have not been described in the literature, despite thorough investigation into the feasibility and safety of pregnancy in this population. We conducted a novel online survey of 226 individuals with Turner syndrome to assess their interest in parenthood, their perspectives on available routes to parenthood, and the factors that influence their decision-making. One-quarter of the respondents were already parents, including 54.5% who had achieved pregnancy and 45.5% who adopted. Of those who were not parents, 68.5% expressed a desire to become a parent. Overall, participants had the strongest interest in adoption as a route to parenthood. Interest in adoption was significantly associated with fear of pregnancy-related risks to their health and the health of a future child. Participants also reported interest in pregnancy and IVF. Interest in both pregnancy and IVF were significantly associated with a desire to experience pregnancy and to have a biological child. This study provides important insights into the perspective of individuals with Turner syndrome with respect to building a family and serves as a valuable counseling resource for clinicians facilitating patient decision-making about options for parenthood.
    Language English
    Publishing date 2022-04-08
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2543127-4
    ISSN 1868-6001 ; 1868-310X
    ISSN (online) 1868-6001
    ISSN 1868-310X
    DOI 10.1007/s12687-022-00588-x
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  10. Article ; Online: The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.

    Lin, Angela E

    Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons

    2015  Volume 73, Issue 12 Suppl, Page(s) S13–6

    Abstract: A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable ... ...

    Abstract A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Once established, care coordination and genetic counseling can be provided for the parents and the patient. Enrolling the patient into a research study could be helpful to understand the diagnosis but, in some circumstances, might not have immediate clinical relevance. A multidisciplinary craniofacial team is generally necessary for long-term management. This article discusses illustrative patients evaluated from 2007 through 2011 with the senior oral and maxillofacial surgeon at the Massachusetts General Hospital (Leonard B. Kaban, DMD, MD). These include single patients with the Nablus mask-like facies syndrome and auriculo-condylar syndrome and a series of 20 patients with Gorlin syndrome followed by a multispecialty team. A successful collaboration between a medical geneticist and an oral and maxillofacial surgeon optimizes the treatment of patients with craniofacial anomalies.
    MeSH term(s) Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/surgery ; Adolescent ; Adult ; Aged ; Basal Cell Nevus Syndrome/diagnosis ; Basal Cell Nevus Syndrome/surgery ; Blepharophimosis/diagnosis ; Blepharophimosis/surgery ; Child ; Child, Preschool ; Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/surgery ; Diagnosis, Differential ; Ear/abnormalities ; Ear/surgery ; Ear Diseases/diagnosis ; Ear Diseases/surgery ; Female ; Genetic Counseling ; Genetic Testing ; Genetics, Medical ; Health Education ; Humans ; Male ; Middle Aged ; Mutation, Missense/genetics ; Patient Care Planning ; Patient Care Team ; Social Support ; Surgery, Oral ; Syndrome
    Language English
    Publishing date 2015-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 392404-x
    ISSN 1531-5053 ; 0278-2391
    ISSN (online) 1531-5053
    ISSN 0278-2391
    DOI 10.1016/j.joms.2015.04.014
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    Ul III Zs.113: Show issues Location:
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