Works matching Dwarfism and genetics

Results: 125

太空诱变玉米核不育突变体矮化的遗传及外施赤霉素分析.

Published in:

Guihaia, 2016, v. 36, n. 6, p. 707, doi. 10.11931/guihaia.gxzw201410045

By:

汪静;
程江;
曹墨菊

Publication type:

Article

Primordial dwarfism: overview of clinical and genetic aspects.

Published in:

Molecular Genetics & Genomics, 2016, v. 291, n. 1, p. 1, doi. 10.1007/s00438-015-1110-y

By:

Khetarpal, Preeti;
Das, Satrupa;
Panigrahi, Inusha;
Munshi, Anjana

Publication type:

Article

Heterologous over-expression of ACC SYNTHASE8 (ACS8) in Populus tremula x P. alba clone 717-1B4 results in elevated levels of ethylene and induces stem dwarfism and reduced leaf size through separate genetic pathways.

Published in:

Frontiers in Plant Science, 2014, v. 5, p. 1, doi. 10.3389/fpls.2014.00514

By:

Plett, Jonathan M.;
Williams, Martin;
LeClair, Gaetan;
Regan, Sharon;
Beardmore, Tannis

Publication type:

Article

Dwarfism in close continental amphibian populations despite lack of genetic isolation.

Published in:

Oikos, 2020, v. 129, n. 8, p. 1243, doi. 10.1111/oik.07086

By:

Hyeun‐Ji, Lee;
Broggi, Juli;
Sánchez‐Montes, Gregorio;
Díaz‐Paniagua, Carmen;
Gomez‐Mestre, Ivan

Publication type:

Article

Pituitary dwarfism in German Shepherd Dogs: a genetic analysis of some Australian data.

Published in:

Journal of Small Animal Practice, 1978, v. 19, n. 1-12, p. 167, doi. 10.1111/j.1748-5827.1978.tb05471.x

By:

NICHOLAS, FRANK

Publication type:

Article

Genetics of congenital dwarfism.

Published in:

Indian Journal of Pediatrics, 1985, v. 52, n. 5, p. 545, doi. 10.1007/BF02751034

By:

Joshi, R.;
Bharucha, B.;
Kumta, N.;
Ramakantan, R.

Publication type:

Article

Reversal of Genetic Dwarfism in Tephrosia vogelii by Gibberellin.

Published in:

Nature, 1960, v. 185, n. 4706, p. 115, doi. 10.1038/185115a0

By:

IRVINE, JAMES E.;
FREYRE, RUBÉN H.

Publication type:

Article

Genetics of Dominant Gibberellin-Insensitive Dwarfism in Maize.

Published in:

Genetics, 1989, v. 121, n. 4, p. 827

By:

Harberd, Nicholas P.;
Freeling, Michael

Publication type:

Article

Hereditary Chondrodystrophy in the Rabbit: Genetics and pathology of a new mutant, a model for metatropic dwarfism.

Published in:

Journal of Heredity, 1975, v. 66, n. 5, p. 271

By:

FOX, R. R.;
CRARY, D. D.

Publication type:

Article

Genetic control of dwarfism in hexaploid triticale ( Triticosecale wittm.).

Published in:

Russian Journal of Genetics, 2006, v. 42, n. 3, p. 286, doi. 10.1134/S1022795406030082

By:

Kurkiev, K. U.;
Kurkiev, U. K.;
Al'derov, A. A.

Publication type:

Article

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Published in:

Medicina (1010660X), 2024, v. 60, n. 11, p. 1906, doi. 10.3390/medicina60111906

By:

Jurca, Alexandru Daniel;
Petchesi, Codruța Diana;
Jurca, Sânziana;
Severin, Emilia;
Jurca, Aurora Alexandra;
Jurca, Claudia Maria

Publication type:

Article

POTRET EKSISTENSI MANUSIA KERDIL (DWARFISME) DI DESA PALAK SIRING DARI PERSPEKTIF INTERPERSONAL COMMUNICATION.

Published in:

Journal of Syntax Literate, 2023, v. 8, n. 9, p. 6223, doi. 10.36418/syntax-literate.v6i6

By:

Hidayat, Arif

Publication type:

Article

Genetic dissection of the soybean dwarf mutant dm with integrated genomic, transcriptomic and methylomic analyses.

Published in:

Frontiers in Plant Science, 2022, v. 13, p. 1, doi. 10.3389/fpls.2022.1017672

By:

Jian Song;
Xuewen Wang;
Lan Huang;
Zhongfeng Li;
Honglei Ren;
Jun Wang

Publication type:

Article

Genetic analysis and mapping of a short-internode gene (cladw) in watermelon (Citrullus lanatus L.).

Published in:

Euphytica, 2022, v. 218, n. 8, p. 1, doi. 10.1007/s10681-022-03060-6

By:

Liu, Jiajun;
Gao, Peng;
Wang, Xuezheng;
Liu, Hongyu;
Ma, Shuangwu;
Wang, Jiming;
Luan, Feishi

Publication type:

Article

How to provide a genetic counseling in a simple case of antenatal diagnosis of achondroplasia.

Published in:

Gineco.eu, 2016, v. 12, n. 2, p. 56, doi. 10.18643/gieu.2016.56

By:

Radoi, V.;
Bohiltea, R.;
Bohiltea, C.;
Carstoiu, M.;
Vladareanu, S.

Publication type:

Article

Discovery of a Novel Induced Polymorphism in SD1 Gene Governing Semi-Dwarfism in Rice and Development of a Functional Marker for Marker-Assisted Selection.

Published in:

Plants (2223-7747), 2020, v. 9, n. 9, p. 1198, doi. 10.3390/plants9091198

By:

Bhuvaneswari, Shivashankar;
Gopala Krishnan, Subbaiyan;
Ellur, Ranjith Kumar;
Vinod, Kunnummal Kurungara;
Bollinedi, Haritha;
Bhowmick, Prolay Kumar;
Bansal, Vijay Prakash;
Nagarajan, Mariappan;
Singh, Ashok Kumar

Publication type:

Article

HSP90 Contributes to chs3-2D - Mediated Autoimmunity.

Published in:

Frontiers in Plant Science, 2022, v. 13, p. 1, doi. 10.3389/fpls.2022.888449

By:

Lu, Junxing;
Liang, Wanwan;
Zhang, Nanbing;
van Wersch, Solveig;
Li, Xin

Publication type:

Article

In vitro proliferation of achondroplastic and normal mouse chondrocytes, before and after basic fibroblast growth factor stimulation.

Published in:

Cell Proliferation, 2000, v. 33, n. 6, p. 397, doi. 10.1046/j.1365-2184.2000.00185.x

By:

Argentin, G.;
Cicchetti, R.

Publication type:

Article

Fusarium wilt–common bean pathosystem: Pathogen variability and genetic control.

Published in:

Crop Science, 2023, v. 63, n. 5, p. 2609, doi. 10.1002/csc2.21063

By:

Benchimol‐Reis, Luciana L.;
Bueno, César J.;
Carbonell, Sérgio A. M.;
Chiorato, Alisson F.

Publication type:

Article

Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

Published in:

2008

By:

Schell-Apacik, Chayim;
Hardt, Michael;
Ertl-Wagner, Birgit;
Klopocki, Eva;
Möhrenschlager, Matthias;
Heinrich, Uwe;
Voss, Hubertus;
Möhrenschlager, Matthias;
von Voss, Hubertus

Publication type:

journal article

RIN13-mediated disease resistance depends on the SNC1–EDS1/PAD4 signaling pathway in Arabidopsis.

Published in:

Journal of Experimental Botany, 2020, v. 71, n. 22, p. 7393, doi. 10.1093/jxb/eraa433

By:

Liu, Xiaoxiao;
Liu, Hui;
He, Jingjing;
Zhang, Siyuan;
Han, Hui;
Wang, Zhangying;
Liu, Wen-Cheng;
Liang, Yun-Kuan;
Gao, Zhiyong

Publication type:

Article

Genomics of Dwarfism in Italian Local Chicken Breeds.

Published in:

Genes, 2023, v. 14, n. 3, p. 633, doi. 10.3390/genes14030633

By:

Perini, Francesco;
Cendron, Filippo;
Wu, Zhou;
Sevane, Natalia;
Li, Zhiqiang;
Huang, Chunhua;
Smith, Jacqueline;
Lasagna, Emiliano;
Cassandro, Martino;
Penasa, Mauro

Publication type:

Article

PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism.

Published in:

Genes, 2021, v. 12, n. 10, p. 1489, doi. 10.3390/genes12101489

By:

Rudd Garces, Gabriela;
Turba, Maria Elena;
Muracchini, Myriam;
Diana, Alessia;
Jagannathan, Vidhya;
Gentilini, Fabio;
Leeb, Tosso

Publication type:

Article

Identification of Loci Controlling the Dwarfism Trait in the White Sailfin Molly (Poecilia latipinna) Using Genome-Wide Association Studies Based on Genotyping-By-Sequencing.

Published in:

Genes, 2019, v. 10, n. 6, p. 418, doi. 10.3390/genes10060418

By:

Shao, Fan;
Liu, Jing;
Ren, Mengyuan;
Li, Junying;
Bao, Haigang;
Wu, Changxin

Publication type:

Article

The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso).

Published in:

Pediatric Reports, 2020, v. 12, n. 1, p. 20, doi. 10.4081/pr.2020.8231

By:

Ouattara, Ad Bafa Ibrahim;
Barro, Makoura;
Nacro, Sahoura Fatimata;
Traoré, Ibraïma;
Sanogo, Bintou;
Diallo, Jean W.;
Nacro, Boubacar

Publication type:

Article

Obesity in achondroplasia patients: from evidence to medical monitoring.

Published in:

2019

By:

Saint-Laurent, Celine;
Garde-Etayo, Laura;
Gouze, Elvire

Publication type:

journal article

Brassica napus DS-3, encoding a DELLA protein, negatively regulates stem elongation through gibberellin signaling pathway.

Published in:

Theoretical & Applied Genetics, 2017, v. 130, n. 4, p. 727, doi. 10.1007/s00122-016-2846-4

By:

Zhao, Bo;
Li, Haitao;
Li, Juanjuan;
Wang, Bo;
Dai, Cheng;
Wang, Jing;
Liu, Kede

Publication type:

Article

Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway.

Published in:

Nature Medicine, 2004, v. 10, n. 1, p. 80, doi. 10.1038/nm971

By:

Akihiro Yasoda, Charles L.;
Yasato Komatsu, Charles L.;
Hideki Chusho, Charles L.;
Takashi Miyazawa, Charles L.;
Ozasa, Ami;
Masako Miura, Ami;
Tatsuya Kurihara, Ami;
Tomohiro Rogi, Ami;
Shoji Tanaka;
Suda, Michio;
Naohisa Tamura, Michio;
Yoshihiro Ogawa;
Kazuwa Nakao

Publication type:

Article

High-resolution computed tomography temporal bone imaging in achondroplasia.

Published in:

Baylor University Medical Center Proceedings, 2021, v. 34, n. 3, p. 419, doi. 10.1080/08998280.2020.1868245

By:

Kochar, Puneet S.;
Soin, Priti;
Megahed, Ayah

Publication type:

Article

Reduced Longevity in Untreated Patients with Isolated Growth Hormone Deficiency.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 8, p. 3664, doi. 10.1210/jc.2002-021938

By:

BESSON, AMÉLIE;
SALEMI, SOUZAN;
GALLATI, SABINA;
JENAL, ARTHUR;
HORN, RUDOLF;
MULLIS, PIA S.;
MULLIS, PRIMUS E.

Publication type:

Article

The Impact of Congenital, Severe, Untreated Growth Hormone (GH) Deficiency on Bone Size and Density in Young Adults: Insights from Genetic GH-Releasing Hormone Receptor Deficiency.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 6, p. 2614, doi. 10.1210/jc.2002-021120

By:

MAHESHWARI, HIRALAL G.;
BOUILLON, ROGER;
NIJS, JOS;
OGANOV, VICTOR S.;
BAKULIN, ALEXEJ V.;
BAUMANN, GERHARD

Publication type:

Article

Decreased lifespan in female "Munchkin" actors from the cast of the 1939 film version of The Wizard of Oz does not support the hypothesis linking hypopituitary dwarfism to longevity.

Published in:

GeroScience, 2022, v. 44, n. 5, p. 2527, doi. 10.1007/s11357-022-00680-7

By:

Fazekas-Pongor, Vince;
Péterfi, Anna;
Major, Dávid;
Szarvas, Zsófia;
Fekete, Monika;
Tabak, Adam G.;
Csiszar, Anna;
Sonntag, William E.;
Austad, Steven N.;
Ungvari, Zoltan I.

Publication type:

Article

Successful polar body-based preimplantation genetic diagnosis for achondroplasia.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, n. 2, p. 276, doi. 10.1016/S1472-6483(10)60586-X

By:

Altarescu, Gheona;
Renbaum, P.;
Brooks P., B.;
Margalioth, E. J.;
Chetrit, A. Ben;
Munter, G.;
Levy-Lahad, E.;
Eldar-Geva, T.

Publication type:

Article

Grebe Syndrome - Case Report With Review of Literature.

Published in:

2021

By:

N., Rashmi;
H. S., Kiran

Publication type:

Case Study

Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094861

By:

Murgiano, Leonardo;
Jagannathan, Vidhya;
Benazzi, Cinzia;
Bolcato, Marilena;
Brunetti, Barbara;
Muscatello, Luisa Vera;
Dittmer, Keren;
Piffer, Christian;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

Direct Assessment of the Effect of the Gly380Arg Achondroplasia Mutation on FGFR3 Dimerization Using Quantitative Imaging FRET.

Published in:

PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0046678

By:

Placone, Jesse;
Hristova, Kalina

Publication type:

Article

Effect of the G375C and G346E Achondroplasia Mutations on FGFR3 Activation.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034808

By:

Lijuan He;
Serrano, Christopher;
Niphadkar, Nitish;
Shobnam, Nadia;
Hristova, Kalina

Publication type:

Article

Identifying Quantitative Trait Loci Affecting Resistance to Congenital Hypothyroidism in 129+Ter/SvJcl Strain Mice.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0031035

By:

Hosoda, Yayoi;
Sasaki, Nobuya;
Kameda, Yayoi;
Torigoe, Daisuke;
Agui, Takashi

Publication type:

Article

A Novel Role for the Centrosomal Protein, Pericentrin, in Regulation of Insulin Secretory Vesicle Docking in Mouse Pancreatic β-cells.

Published in:

PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011812

By:

Jurczyk, Agata;
Pino, Steven C.;
O'Sullivan-Murphy, Bryan;
Addorio, Martha;
Lidstone, Erich A.;
diIorio, Philip;
Lipson, Kathryn L.;
Standley, Clive;
Fogarty, Kevin;
Lifshitz, Lawrence;
Urano, Fumihiko;
Mordes, John P.;
Greiner, Dale L.;
Rossini, Aldo A.;
Rita Bortell

Publication type:

Article

Prenatal diagnosis of achondroplasia in primary care settings -- Recognising the soft markers: A case report.

Published in:

Malaysian Family Physician, 2024, p. 1, doi. 10.51866/cr.698

By:

Mohd Fudzi, Wan Fadzleen Ezyani;
Yaacob, Lili Husniati;
Rahman, Razlina Abdul;
Lau, Chiew Chea

Publication type:

Article

The KCNQ1-KCNE2 K+ channel is required for adequate thyroid I- uptake.

Published in:

FASEB Journal, 2012, v. 26, n. 8, p. 3252, doi. 10.1096/fj.12-206110

By:

Purtell, Kerry;
Paroder-Belenitsky, Monika;
Reyna-Neyra, Andrea;
Nicola, Juan P.;
Koba, Wade;
Fine, Eugene;
Carrasco, Nancy;
Abbott, Geoffrey W.

Publication type:

Article

Mendelian Diseases and Conditions in Croatian Island Populations: Historic Records and New Insights.

Published in:

Croatian Medical Journal, 2006, v. 47, n. 4, p. 543

By:

Saftić, Vanja;
Rudan, Diana;
Zgaga, Lina

Publication type:

Article

Bioarchaeological insights into disability: Skeletal dysplasia from the Iron Age northern China.

Published in:

International Journal of Osteoarchaeology, 2022, v. 32, n. 2, p. 367, doi. 10.1002/oa.3071

By:

Zhou, Yawei;
Lu, Yiping;
He, Jianing;
Li, Ziyi;
Zhang, Xiangyu;
Zhang, Qun;
Yeh, Hui‐yuan

Publication type:

Article

Clinical Findings and Dental Manifestations Associated With Microcephalic Osteodysplastic Primordial Dwarfism Type II: A Case Report.

Published in:

Journal of Pediatrics Review, 2022, v. 10, n. 4, p. 321, doi. 10.32598/jpr.10.4.1051.2

By:

Salman, Bahareh Nazemi;
Biglar, Nazila;
Mirkeshavarz, Masoumeh;
Ansari, Ghasem

Publication type:

Article

Clinical Findings and Dental Manifestations Associated q With Microcephalic Osteodysplastic Primordial Dwarfism Type II: A Case Report.

Published in:

Journal of Pediatrics Review, 2022, v. 10, n. 3, p. 321, doi. 10.32598/jpr.10.4.1051.2

By:

Salman, Bahareh Nazemi;
Biglar, Nazila;
Mirkeshavarz, Masoumeh;
Ansari, Ghasem

Publication type:

Article

Primordial Dwarfism: A Case Series From North East of Iran and Literature Review.

Published in:

Journal of Pediatrics Review, 2019, v. 7, n. 2, p. 113, doi. 10.32598/jpr.7.2.113

By:

Vakili, Rahim;
Hashemian, Somayyeh

Publication type:

Article

水稻矮秆迟抽穗突变体d534的性状及其对赤霉素的敏感性分析.

Published in:

Journal of Agricultural Science & Technology (1008-0864), 2024, v. 26, n. 3, p. 7, doi. 10.13304/j.nykjdb.2023.0649

By:

曾建光;
刘桃李;
孙林娟;
袁定阳;
黄钰博;
金晨钟;
谭炎宁

Publication type:

Article

Multikinase activity of fibroblast growth factor receptor (FGFR) inhibitors SU5402, PD173074, AZD1480, AZD4547 and BGJ398 compromises the use of small chemicals targeting FGFR catalytic activity for therapy of short-stature syndromes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 1, p. 9, doi. 10.1093/hmg/ddv441

By:

Gudernova, Iva;
Vesela, Iva;
Balek, Lukas;
Buchtova, Marcela;
Dosedelova, Hana;
Kunova, Michaela;
Pivnicka, Jakub;
Jelinkova, Iva;
Roubalova, Lucie;
Kozubik, Alois;
Krejci, Pavel

Publication type:

Article

Targeted gene correction and functional recovery in achondroplasia patient-derived iPSCs.

Published in:

Stem Cell Research & Therapy, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13287-021-02555-8

By:

Zou, Huan;
Guan, Mingfeng;
Li, Yundong;
Luo, Fang;
Wang, Wenyuan;
Qin, Yiren

Publication type:

Article

An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice.

Published in:

Science Translational Medicine, 2021, v. 13, n. 592, p. 1, doi. 10.1126/scitranslmed.aba4226

By:

Kimura, Takeshi;
Bosakova, Michaela;
Nonaka, Yosuke;
Hruba, Eva;
Yasuda, Kie;
Futakawa, Satoshi;
Kubota, Takuo;
Fafilek, Bohumil;
Gregor, Tomas;
Abraham, Sara P.;
Gomolkova, Regina;
Belaskova, Silvie;
Pesl, Martin;
Csukasi, Fabiana;
Duran, Ivan;
Fujiwara, Masatoshi;
Kavkova, Michaela;
Zikmund, Tomas;
Kaiser, Josef;
Buchtova, Marcela

Publication type:

Article