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  1. Article ; Online: Prediction of p

    Lu, Yipin / Anand, Shankara / Shirley, William / Gedeck, Peter / Kelley, Brian P / Skolnik, Suzanne / Rodde, Stephane / Nguyen, Mai / Lindvall, Mika / Jia, Weiping

    Journal of chemical information and modeling

    2019  Volume 59, Issue 11, Page(s) 4706–4719

    Abstract: The acid-base dissociation constant, p ...

    Abstract The acid-base dissociation constant, p
    MeSH term(s) Acids/chemistry ; Algorithms ; Amines/chemistry ; Hydrogen-Ion Concentration ; Machine Learning ; Models, Chemical
    Chemical Substances Acids ; Amines
    Language English
    Publishing date 2019-11-05
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 190019-5
    ISSN 1549-960X ; 0095-2338
    ISSN (online) 1549-960X
    ISSN 0095-2338
    DOI 10.1021/acs.jcim.9b00498
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Molecular Insights into the Mechanism of Modulatory Effects of Proton Pump Inhibitors on P-glycoprotein Mediated Drug Transport of Palbociclib and Ribociclib.

    Desai, Mrunal Pradeep / Harish Patil, Prajakta / Vullendula, Sai Krishna Anand / Birangal, Sumit / Shenoy, G Gautham / Rao, Mahadev / Dengale, Swapnil Jayant / Bhat, Krishnamurthy / Channabasavaiah, Jagadish Puralae

    Current drug metabolism

    2023  Volume 24, Issue 6, Page(s) 458–465

    Abstract: Background: Palbociclib and ribociclib are substrates of efflux transporter P-glycoprotein ... administered with them are known to show inhibitory effect on P-glycoprotein.: Objective ... Therefore, this study aims to investigate the role of proton pump inhibitors in inhibition of P-glycoprotein mediated ...

    Abstract Background: Palbociclib and ribociclib are substrates of efflux transporter P-glycoprotein which plays a key role in absorption and transport of these drugs. Proton pump inhibitors, when co-administered with them are known to show inhibitory effect on P-glycoprotein.
    Objective: Therefore, this study aims to investigate the role of proton pump inhibitors in inhibition of P-glycoprotein mediated efflux of palbociclib and ribociclib.
    Method: A combined approach of molecular docking and
    Results: Molecular docking studies revealed that omeprazole, rabeprazole and pantoprazole bound to the ATP site of nucleotide binding domain with binding energies of -27.53, -29.56 and -38.44 Kcal/mol respectively. In
    Conclusion: The experimental evidence presented highlights the fact that proton pump inhibitors have potential to inhibit P-glycoprotein, giving rise to drug interactions with palbociclib and ribociclib. Hence, monitoring is required while proton pump inhibitors and cyclin-dependent kinase inhibitors are being co-administered to avoid adverse events.
    Language English
    Publishing date 2023-08-14
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2064815-7
    ISSN 1875-5453 ; 1389-2002
    ISSN (online) 1875-5453
    ISSN 1389-2002
    DOI 10.2174/1389200224666230815122312
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Response to: Letter from P. Gillard and B. Benninghoff.

    Rathi, Niraj / Desai, Sajjad / Kawade, Anand / Venkatramanan, Padmasani / Kundu, Ritabrata / Lalwani, Sanjay K / Dubey, A P / Venkateswara Rao, J / Narayanappa, D / Ghildiyal, Radha / Gogtay, Nithya J / Venugopal, P / Palkar, Sonali / Munshi, Renuka / Kang, Gagandeep / Babji, Sudhir / Bavdekar, Ashish / Juvekar, Sanjay / Ganguly, Nupur /
    Niyogi, Prabal / Uttam, Kheya Ghosh / Rajani, H S / Kondekar, Alpana / Kumbhar, Dipti / Mohanlal, Smilu / Agarwal, Mukesh C / Shetty, Parvan / Antony, Kalpana / Gunale, Bhagwat / Dharmadhikari, Abhijeet / Tang, Yuxiao / Kulkarni, Prasad S / Flores, Jorge

    Vaccine

    2019  Volume 37, Issue 23, Page(s) 2991–2992

    MeSH term(s) Animals ; Asian Continental Ancestry Group ; Cattle ; Humans ; Infant ; Research Design ; Rotavirus ; Vaccination
    Language English
    Publishing date 2019-05-09
    Publishing country Netherlands
    Document type Letter ; Comment
    ZDB-ID 605674-x
    ISSN 1873-2518 ; 0264-410X
    ISSN (online) 1873-2518
    ISSN 0264-410X
    DOI 10.1016/j.vaccine.2019.04.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Peripheral ulcerative keratitis in children owing to P-ANCA-associated vasculitis.

    Mahendradas, Padmamalini / Galiyugavaradhan, Sugaranjai / Shivanna, Yathish / Kumar, Sharath / Jois, Ramesh / Rao, Anand / Shetty, Rohit

    Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

    2020  Volume 55, Issue 5, Page(s) e175–e178

    MeSH term(s) Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ; Antibodies, Antineutrophil Cytoplasmic ; Child ; Corneal Ulcer/diagnosis ; Corneal Ulcer/drug therapy ; Humans ; Peroxidase
    Chemical Substances Antibodies, Antineutrophil Cytoplasmic ; Peroxidase (EC 1.11.1.7)
    Language English
    Publishing date 2020-05-25
    Publishing country England
    Document type Letter
    ZDB-ID 80091-0
    ISSN 1715-3360 ; 0008-4182
    ISSN (online) 1715-3360
    ISSN 0008-4182
    DOI 10.1016/j.jcjo.2020.04.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: PAK4 inhibition significantly potentiates Gemcitabine activity in PDAC cells via inhibition of Wnt/β-catenin, p-ERK/MAPK and p-AKT/PI3K pathways.

    Samant, Charudatt / Kale, Ramesh / Bokare, Anand / Verma, Mahip / Pai, K Sreedhara Ranganath / Bhonde, Mandar

    Biochemistry and biophysics reports

    2023  Volume 35, Page(s) 101544

    Abstract: ... further inhibited levels of phosphorylated ERK (p-ERK); Gemcitabine-induced phosphorylated AKT (p-AKT ... phosphorylated and total c-Myc. These results suggest possible role of β-catenin, p-ERK and p-AKT, key effector ...

    Abstract Pancreatic Ductal Adenocarcinoma (PDAC) remains one of the most difficult to treat cancers. Gemcitabine is still the standard of care treatment for PDAC but with modest survival benefit and well reported resistance. Here we explored potential of inhibiting p21 activated kinase 4 (PAK4), a downstream protein of KRAS oncogenic pathway, in combination with Gemcitabine in PDAC cells. PAK4 inhibition by KPT-9274 led to significant potentiation of Gemcitabine activity in PDAC cells, with an increase in apoptosis, DNA damage and cell cycle arrest. At molecular level, PAK4 inhibition dose dependently inhibited Gemcitabine-induced β-catenin, c-JUN and Ribonucleotide Reductase subunit 2 (RRM2) levels. PAK4 inhibition further inhibited levels of phosphorylated ERK (p-ERK); Gemcitabine-induced phosphorylated AKT (p-AKT), phosphorylated and total c-Myc. These results suggest possible role of β-catenin, p-ERK and p-AKT, key effector proteins of Wnt/β-catenin, MAPK and PI3K pathways respectively, in sensitisation of Gemcitabine activity with PAK4 inhibition. Our data unravel probable molecular mechanisms behind combination of PAK4 inhibition with Gemcitabine to counter PDAC, which may be unequivocally proved further with knock down of PAK4. Our findings provide a strong rationale to exploit the combination therapy of Gemcitabine and PAK4 inhibitor for PDAC at pre-clinical and clinical levels.
    Language English
    Publishing date 2023-09-09
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2831046-9
    ISSN 2405-5808 ; 2405-5808
    ISSN (online) 2405-5808
    ISSN 2405-5808
    DOI 10.1016/j.bbrep.2023.101544
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Identification of putative binding interface of PI(3,5)P

    Liu, Haoqiu / Peck, Xin Yi / Choong, Yeu Khai / Ng, Woei Shyuan / Engl, Wilfried / Raghuvamsi, Palur Venkata / Zhao, Ziqing Winston / Anand, Ganesh S / Zhou, Yijun / Sivaraman, J / Xu, Qiufang / Wong, Sek-Man

    Virology

    2022  Volume 570, Page(s) 81–95

    Abstract: ... and PI(3,5)P ...

    Abstract Rice black-streaked dwarf virus (RBSDV) is an important reovirus that infects both plants and its transmission vector small brown planthopper, causing severe crop loss. High affinity binding between RBSDV P10 and PI(3,5)P
    MeSH term(s) Animals ; Hemiptera ; Lipids ; Oryza ; Plant Diseases ; Plant Viruses/genetics ; Reoviridae
    Chemical Substances Lipids
    Language English
    Publishing date 2022-04-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 200425-2
    ISSN 1096-0341 ; 0042-6822
    ISSN (online) 1096-0341
    ISSN 0042-6822
    DOI 10.1016/j.virol.2022.03.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Fluorescence Sensing of pH and p-Nitrophenol Using an AIEE Active Pyridoxal Derived Schiff Base.

    Patel, Dhvani A / Anand, Thangaraj / Sk, Ashok Kumar / Sahoo, Suban K

    Journal of fluorescence

    2023  Volume 33, Issue 4, Page(s) 1431–1441

    Abstract: An easy-to-prepare aggregation-induced emission enhancement (AIEE) active Schiff base NPY was synthesized by condensing vitamin ... ...

    Abstract An easy-to-prepare aggregation-induced emission enhancement (AIEE) active Schiff base NPY was synthesized by condensing vitamin B
    Language English
    Publishing date 2023-02-06
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2016892-5
    ISSN 1573-4994 ; 1053-0509
    ISSN (online) 1573-4994
    ISSN 1053-0509
    DOI 10.1007/s10895-023-03167-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: A novel leishmanial copper P-type ATPase plays a vital role in parasite infection and intracellular survival.

    Paul, Rupam / Banerjee, Sourav / Sen, Samarpita / Dubey, Pratiksha / Maji, Saptarshi / Bachhawat, Anand K / Datta, Rupak / Gupta, Arnab

    The Journal of biological chemistry

    2021  Volume 298, Issue 2, Page(s) 101539

    Abstract: Copper (Cu) is essential for all life forms; however, in excess, it becomes toxic. Toxic properties of Cu are known to be utilized by host species against various pathogenic invasions. Leishmania, in both free-living and intracellular forms, exhibits ... ...

    Abstract Copper (Cu) is essential for all life forms; however, in excess, it becomes toxic. Toxic properties of Cu are known to be utilized by host species against various pathogenic invasions. Leishmania, in both free-living and intracellular forms, exhibits appreciable tolerance toward Cu stress. While determining the mechanism of Cu-stress evasion employed by Leishmania, we identified and characterized a hitherto unknown Cu-ATPase in Leishmania major and established its role in parasite survival in host macrophages. This novel L. major Cu-ATPase, LmATP7, exhibits homology with its orthologs at multiple motifs. In promastigotes, LmATP7 primarily localized at the plasma membrane. We also show that LmATP7 exhibits Cu-dependent expression patterns and complements Cu transport in a Cu-ATPase-deficient yeast strain. Promastigotes overexpressing LmATP7 exhibited higher survival upon Cu stress, indicating efficacious Cu export compared with Wt and heterozygous LmATP7 knockout parasites. We further explored macrophage-Leishmania interactions with respect to Cu stress. We found that Leishmania infection triggers upregulation of major mammalian Cu exporter, ATP7A, in macrophages, and trafficking of ATP7A from the trans-Golgi network to endolysosomes in macrophages harboring amastigotes. Simultaneously, in Leishmania, we observed a multifold increase in LmATP7 transcripts as the promastigote becomes established in macrophages and morphs to the amastigote form. Finally, overexpressing LmATP7 in parasites increases amastigote survivability within macrophages, whereas knocking it down reduces survivability drastically. Mice injected in their footpads with an LmATP7-overexpressing strain showed significantly larger lesions and higher amastigote loads as compared with controls and knockouts. These data establish the role of LmATP7 in parasite infectivity and intramacrophagic survivability.
    MeSH term(s) Animals ; Copper/metabolism ; Leishmania major/enzymology ; Leishmaniasis/metabolism ; Leishmaniasis/parasitology ; Mammals ; Mice ; P-type ATPases/metabolism
    Chemical Substances Copper (789U1901C5) ; P-type ATPases (EC 3.6.3.-)
    Language English
    Publishing date 2021-12-25
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2997-x
    ISSN 1083-351X ; 0021-9258
    ISSN (online) 1083-351X
    ISSN 0021-9258
    DOI 10.1016/j.jbc.2021.101539
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Evenness mediates the global relationship between forest productivity and richness [Correction: Sept. 2023, 111(9), p. 2090]

    Hordijk, Iris / Maynard, Daniel S. / Hart, Simon P. / Lidong, Mo / Steege, Hans ter / Liang, Jingjing / de‐Miguel, Sergio / Nabuurs, Gert‐Jan / Reich, Peter B. / Abegg, Meinrad / Adou Yao, C. Yves / Alberti, Giorgio / Almeyda Zambrano, Angelica M. / Alvarado, Braulio V. / Esteban, Alvarez‐Davila / Alvarez‐Loayza, Patricia / Alves, Luciana F. / Ammer, Christian / Antón‐Fernández, Clara /
    Araujo‐Murakami, Alejandro / Arroyo, Luzmila / Avitabile, Valerio / Aymard C, Gerardo A. / Baker, Timothy / Bałazy, Radomir / Banki, Olaf / Barroso, Jorcely / Bastian, Meredith L. / Bastin, Jean‐Francois / Birigazzi, Luca / Birnbaum, Philippe / Bitariho, Robert / Boeckx, Pascal / Bongers, Frans / Bouriaud, Olivier / Brancalion, Pedro H. S. / Brandl, Susanne / Brienen, Roel / Broadbent, Eben N. / Bruelheide, Helge / Bussotti, Filippo / Cazzolla Gatti, Roberto / César, Ricardo G. / Cesljar, Goran / Chazdon, Robin / Chen, Han Y. H. / Chisholm, Chelsea / Cienciala, Emil / Clark, Connie J. / Clark, David B. / Colletta, Gabriel / Coomes, David / Cornejo Valverde, Fernando / Corral‐Rivas, Jose J. / Crim, Philip / Cumming, Jonathan / Dayanandan, Selvadurai / de Gasper, André L. / Decuyper, Mathieu / Derroire, Géraldine / DeVries, Ben / Djordjevic, Ilija / Iêda, Amaral / Dourdain, Aurélie / Nestor Laurier, Engone Obiang / Enquist, Brian / Eyre, Teresa / Fandohan, Adandé Belarmain / Fayle, Tom M. / Ferreira, Leandro V. / Feldpausch, Ted R. / Finér, Leena / Fischer, Markus / Fletcher, Christine / Frizzera, Lorenzo / Gamarra, Javier G. P. / Gianelle, Damiano / Glick, Henry B. / Harris, David / Hector, Andrew / Hemp, Andreas / Hengeveld, Geerten / Hérault, Bruno / Herbohn, John / Hillers, Annika / Honorio Coronado, Eurídice N. / Hui, Cang / Cho, Hyunkook / Ibanez, Thomas / Jung, Il Bin / Imai, Nobuo / Jagodziński, Andrzej M. / Jaroszewicz, Bogdan / Johanssen, Vivian / Joly, Carlos A. / Jucker, Tommaso / Karminov, Viktor / Kartawinata, Kuswata / Kearsley, Elizabeth / Kenfack, David / Kennard, Deborah / Kepfer‐Rojas, Sebastian / Keppel, Gunnar / Khan, Mohammed Latif / Killeen, Timothy / Kim, Hyun-Seok / Kitayama, Kanehiro / Köhl, Michael / Korjus, Henn / Kraxner, Florian / Laarmann, Diana / Lang, Mait / Lewis, Simon / Lu, Huicui / Lukina, Natalia / Maitner, Brian / Malhi, Y. / Marcon, Eric / Marimon, Beatriz Schwantes / Marimon‐Junior, Ben Hur / Marshall, Andrew Robert / Martin, Emanuel / Martynenko, Olga / Meave, Jorge A. / Melo‐Cruz, Omar / Mendoza, Casimiro / Merow, Cory / Miścicki, Stanisław / Mendoza, Abel Monteagudo / Moreno, Vanessa / Mukul, Sharif A. / Mundhenk, Philip / Nava‐Miranda, Maria G. / Neill, David / Neldner, Victor / Nevenic, Radovan / Ngugi, Michael / Niklaus, Pascal A. / Oleksyn, J. / Ontikov, Petr / Ortiz‐Malavasi, Edgar / Pan, Yude / Paquette, Alain / Parada‐Gutierrez, Alexander / Parfenova, Elena / Park, Minjee / Parren, Marc / Parthasarathy, Narayanaswamy / Peri, Pablo L. / Pfautsch, Sebastian / Phillips, Oliver L. / Picard, Nicolas / Piedade, Maria Teresa / Piotto, Daniel / Pitman, Nigel C. A. / Polo, Irina / Poorter, L. / Poulsen, Axel Dalberg / Poulsen, John R. / Pretzsch, Hans / Ramirez Arevalo, Freddy / Restrepo‐Correa, Zorayda / Rodeghiero, Mirco / Rolim, Samir / Roopsind, Anand / Rovero, Francesco / Rutishauser, Ervan / Saikia, Purabi / Salas‐Eljatib, Christian / Schall, Peter / Schepaschenko, Dmitry / Scherer‐Lorenzen, Michael / Schmid, Bernhard / Schöngart, Jochen / Searle, Eric B. / Šebeň, Vladimír / Serra‐Diaz, Josep M. / Sheil, Douglas / Shvidenko, Anatoly / Silva‐Espejo, Javier / Silveira, Marcos / Singh, James / Sist, Plinio / Slik, Ferry / Sonké, Bonaventure / Souza, Alexandre F. / Stereńczak, Krzysztof / Svenning, Jens‐Christian / Svoboda, Miroslav / Swanepoel, Ben / Targhetta, Natalia / Tchebakova, Nadja / Thomas, Raquel / Tikhonova, Elena / Umunay, Peter / Usoltsev, Vladimir / Valencia, Renato / Valladares, Fernando / van der Plas, Fons / Tran, Do Van / Van Nuland, Michael E. / Vásquez, Rodolfo / Verbeeck, Hans / Viana, Helder / Vibrans, Alexander C. / Vieira, Simone / Gadow, Klaus von / Wang, Hua‐Feng / Watson, James / Werner, Gijsbert D. A. / Wiser, Susan K. / Wittmann, Florian / Wortel, Verginia / Zagt, Roderick / Zawila‐Niedzwiecki, Tomasz / Zhang, Chunyu / Zhao, Xiuhai / Zhou, Mo / Zhu, Zhi‐Xin / Zo‐Bi, Irie Casimir / Crowther, Thomas W.

    Journal of Ecology. 2023 June, v. 111, no. 6, p. 1308-1326

    2023  , Page(s) 1308–1326

    Abstract: 1. Biodiversity is an important component of natural ecosystems, with higher species richness often correlating with an increase in ecosystem productivity. Yet, this relationship varies substantially across environments, typically becoming less ... ...

    Abstract 1. Biodiversity is an important component of natural ecosystems, with higher species richness often correlating with an increase in ecosystem productivity. Yet, this relationship varies substantially across environments, typically becoming less pronounced at high levels of species richness. However, species richness alone cannot reflect all important properties of a community, including community evenness, which may mediate the relationship between biodiversity and productivity. If the evenness of a community correlates negatively with richness across forests globally, then a greater number of species may not always increase overall diversity and productivity of the system. Theoretical work and local empirical studies have shown that the effect of evenness on ecosystem functioning may be especially strong at high richness levels, yet the consistency of this remains untested at a global scale. 2. Here, we used a dataset of forests from across the globe, which includes composition, biomass accumulation and net primary productivity, to explore whether productivity correlates with community evenness and richness in a way that evenness appears to buffer the effect of richness. Specifically, we evaluated whether low levels of evenness in speciose communities correlate with the attenuation of the richness–productivity relationship. 3. We found that tree species richness and evenness are negatively correlated across forests globally, with highly speciose forests typically comprising a few dominant and many rare species. Furthermore, we found that the correlation between diversity and productivity changes with evenness: at low richness, uneven communities are more productive, while at high richness, even communities are more productive. 4. Synthesis. Collectively, these results demonstrate that evenness is an integral component of the relationship between biodiversity and productivity, and that the attenuating effect of richness on forest productivity might be partly explained by low evenness in speciose communities. Productivity generally increases with species richness, until reduced evenness limits the overall increases in community diversity. Our research suggests that evenness is a fundamental component of biodiversity–ecosystem function relationships, and is of critical importance for guiding conservation and sustainable ecosystem management decisions.
    Keywords biomass production ; data collection ; ecosystem management ; ecosystems ; forests ; net primary productivity ; rare species ; species richness ; trees
    Language English
    Dates of publication 2023-06
    Size p. 1308-1326
    Publishing place John Wiley & Sons, Ltd
    Document type Article ; Online
    Note JOURNAL ARTICLE
    ZDB-ID 3023-5
    ISSN 0022-0477
    ISSN 0022-0477
    DOI 10.1111/1365-2745.14098
    Database NAL-Catalogue (AGRICOLA)

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  10. Article ; Online: Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.

    Poole, Rebecca L / Curry, Philippa D K / Marcinkute, Ruta / Brewer, Carole / Coman, David / Hobson, Emma / Johnson, Diana / Lynch, Sally Ann / Saggar, Anand / Searle, Claire / Scurr, Ingrid / Turnpenny, Peter D / Vasudevan, Pradeep / Tatton-Brown, Katrina

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 8, Page(s) 2445–2454

    Abstract: ... patients with MTOR missense variants are published, including 14 (47%) with the MTOR c.5395G>A p ... of the SKS phenotype through the investigation of 16 further patients with the MTOR c.5395G>A p.(Glu1799Lys ...

    Abstract Smith-Kingsmore Syndrome (SKS) is a rare genetic syndrome associated with megalencephaly, a variable intellectual disability, autism spectrum disorder, and MTOR gain of function variants. Only 30 patients with MTOR missense variants are published, including 14 (47%) with the MTOR c.5395G>A p.(Glu1799Lys) variant. Limited phenotypic data impacts the quality of information delivered to families and the robustness of interpretation of novel MTOR missense variation. This study aims to improve our understanding of the SKS phenotype through the investigation of 16 further patients with the MTOR c.5395G>A p.(Glu1799Lys) variant. Through the careful phenotypic evaluation of these 16 patients and integration with data from 14 previously reported patients, we have defined major (100% patients) and frequent (>15%) SKS clinical characteristics and, using these data, proposed guidance for evidence-based management. In addition, in the absence of functional studies, we suggest that the combination of the SKS major clinical features of megalencephaly (where the head circumference is at least 3SD) and an intellectual disability with a de novo MTOR missense variant (absent from population databases) should be considered diagnostic for SKS.
    MeSH term(s) Adolescent ; Alleles ; Amino Acid Substitution ; Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/genetics ; Child ; Child, Preschool ; Facies ; Female ; Genetic Association Studies ; Genetic Loci ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; Megalencephaly/diagnosis ; Megalencephaly/genetics ; Mutation, Missense ; Phenotype ; Syndrome ; TOR Serine-Threonine Kinases/genetics
    Chemical Substances MTOR protein, human (EC 2.7.1.1) ; TOR Serine-Threonine Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2021-05-25
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62350
    Database MEDical Literature Analysis and Retrieval System OnLINE

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