Works matching DE "RECESSIVE genes"

Results: 2100

The indispensable role of Mediator complex subunit 27 during neurodevelopment.

Published in:

Cell & Bioscience, 2025, v. 15, n. 1, p. 1, doi. 10.1186/s13578-025-01425-7

By:

Li, Xiaocheng;
Yiliyaer, Nuermila;
Guo, Tianyu;
Zhao, Hui;
Lei, Yong;
Gu, Shen

Publication type:

Article

Fine Mapping and Screening of Candidate Gene for Yellow-to-Green Mutation in Snap Bean (Phaseolus vulgaris L.) Leaf Color.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5293, doi. 10.3390/ijms26115293

By:

Liu, Chang;
Liu, Dajun;
Feng, Guojun;
Zhang, Taifeng;
Qin, Xiangkai;
Sun, Zhuang;
Yan, Zhishan;
Yang, Xiaoxu

Publication type:

Article

控制水稻光响应基因ELM1的图位克隆.

Published in:

Biotechnology Bulletin, 2025, v. 41, n. 5, p. 82, doi. 10.13560/j.cnki.biotech.bull.1985.2024-1246

By:

杜量衡;
唐黄磊;
张治国

Publication type:

Article

Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles.

Published in:

2025

By:

Pîrlog, Lorin-Manuel;
Pătrășcanu, Andrada-Adelaida;
Kutasi, Eniko;
Iordănescu, Irina;
Militaru, Mariela Sanda

Publication type:

Case Study

Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-03399-5

By:

Nguyen, Trang Thi;
To, Ha Thu Thi;
Le, Anh Ngoc Thi;
Pham, Anh Quang;
Nguyen, Nhu Duc;
Ha, Hao Huu;
Vu, Huyen Thi;
Hoang, Thanh Thai;
Tran, Minh Cong

Publication type:

Article

SAM Syndrome Presenting With Pulmonary Stenosis: A Case Report and Literature Review.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 584, doi. 10.1111/pde.15811

By:

Balan, Batuhan Kerem;
Ersoy‐Evans, Sibel;
Isıyel, Emel;
Alehan, Dursun

Publication type:

Article

Frequency of embryos appropriate for transfer following preimplantation genetic testing for monogenic disease.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 9, p. 2043, doi. 10.1007/s10815-022-02571-4

By:

Stocker, Emma;
Johal, Sheila;
Rippel, Larisa;
Darrah, Rebecca

Publication type:

Article

Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 443, doi. 10.1007/s10815-019-01675-8

By:

Peng, Tianliu;
Lv, Chao;
Tan, Hangjing;
Huang, Jiafeng;
He, Hailun;
Wang, Yan;
Zeng, Minghua;
Yi, Dajing;
Li, Jie;
Deng, Hongwen;
Shi, Xiaobo;
Xiao, Hongmei

Publication type:

Article

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 451, doi. 10.1007/s10815-019-01660-1

By:

Pashaei, Mahdieh;
Rahimi Bidgoli, Mohammad Masoud;
Zare-Abdollahi, Davood;
Najmabadi, Hossein;
Haji-Seyed-Javadi, Ramona;
Fatehi, Farzad;
Alavi, Afagh

Publication type:

Article

The effect of LARP7 on gene expression during osteogenesis.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-024-10216-1

By:

Ozisin, M. Samil;
Imren, Gozde;
Aydin, Busra;
Karaosmanoglu, Beren;
Taskiran, Ekim Z.

Publication type:

Article

Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09728-7

By:

Aslam, Komal;
Saeed, Aysha;
Saeed, Hafiza Iqra;
Bashir, Rasheeda;
Abid, Hanna;
Akhtar, Roeha;
Habib, Nida;
Khan, Ramisha;
Asif, Roha;
Rafiq, Shereen;
Asif, Maria;
Makhdoom, Ehtisham Ul Haq;
Hussain, Muhammad Sajid;
Baig, Shahid Mahmood;
Anjum, Iram

Publication type:

Article

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09560-z

By:

Tasharrofi, Behnoosh;
Najafi, Ali;
Pourbakhtyaran, Elham;
Amirsalari, Susan;
Khan, Golazin Shahbodagh;
Ashrafi, Mahmoud Reza;
Tavasoli, Ali Reza;
Keramatipour, Mohammad;
Heidari, Morteza

Publication type:

Article

Precision mapping and expression analysis of recessive bacterial blight resistance gene xa-45(t) from Oryza glaberrima.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09573-8

By:

Babbar, Ankita;
Rawat, Nidhi;
Kaur, Pavneet;
Singh, Navdeep;
Lore, Jagjeet Singh;
Vikal, Yogesh;
Neelam, Kumari

Publication type:

Article

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4

By:

Liampas, Andreas;
Nicolaou, Paschalis;
Votsi, Christina;
Georghiou, Anthi;
Christodoulou, Kyproula;
Tanteles, George A;
Pantzaris, Marios

Publication type:

Article

Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09326-7

By:

Mehta, Poonam;
Vishvkarma, Rahul;
Gupta, Sushil;
Chattopadhyay, Naibedya;
Rajender, Singh

Publication type:

Article

Identification and genetic inheritance of a new source of broad-spectrum extreme resistance to turnip mosaic virus (TuMV) in Brassica rapa.

Published in:

European Journal of Plant Pathology, 2023, v. 165, n. 4, p. 693, doi. 10.1007/s10658-022-02634-3

By:

Walsh, Hanna M.;
Rönkä, Antti;
Walsh, John A.

Publication type:

Article

Screening chilli ( Capsicum spp.) germplasm against Cucumber mosaic virus and Chilli veinal mottle virus and inheritance of resistance.

Published in:

European Journal of Plant Pathology, 2016, v. 146, n. 3, p. 451, doi. 10.1007/s10658-016-0930-x

By:

Naresh, P.;
Reddy, M.;
Reddy, P.;
Reddy, K.

Publication type:

Article

Impacts of genomic networks governed by human-specific regulatory sequences and genetic loci harboring fixed human-specific neuro-regulatory single nucleotide mutations on phenotypic traits of modern humans.

Published in:

Chromosome Research, 2020, v. 28, n. 3/4, p. 331, doi. 10.1007/s10577-020-09639-w

By:

Glinsky, Gennadi V.

Publication type:

Article

Family-Based Whole Genome Sequencing Identified Novel Variants in ABCA5 Gene in a Patient with Idiopathic Ventricular Tachycardia.

Published in:

Pediatric Cardiology, 2020, v. 41, n. 8, p. 1783, doi. 10.1007/s00246-020-02446-4

By:

Du, Zhanhui;
Kuang, Shan;
Li, Yong;
Han, Peng;
Liu, Junnian;
Wang, Zhiwei;
Huang, Yingping;
Guan, Yuanning;
Xu, Xun;
Liu, Xin;
Banerjee, Santasree;
Pan, Silin

Publication type:

Article

Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 Gene.

Published in:

Audiology & Neurotology, 2021, v. 26, n. 3, p. 157, doi. 10.1159/000510156

By:

Gallo, Samanta;
Trevisi, Patrizia;
Rigon, Chiara;
Caserta, Ezio;
Seif Ali, Dario;
Bovo, Roberto;
Martini, Alessandro;
Cassina, Matteo

Publication type:

Article

Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation.

Published in:

Biochemical Journal, 2024, v. 481, n. 11, p. 683, doi. 10.1042/BCJ20230262

By:

Gomes, Tiago M. Bernardino;
Vincent, Amy E.;
Menger, Katja E.;
Stewart, James B.;
Nicholls, Thomas J.

Publication type:

Article

Enhanced methods to detect haplotypic effects on gene expression.

Published in:

Bioinformatics, 2017, v. 33, n. 15, p. 2307, doi. 10.1093/bioinformatics/btx142

By:

Brown, Robert;
Kichaev, Gleb;
Mancuso, Nicholas;
Boocock, James;
Pasaniuc, Bogdan

Publication type:

Article

谷子高产育种——从主粮株型育种谈起.

Published in:

Journal of Shanxi Agricultural Sciences, 2023, v. 51, n. 10, p. 1121, doi. 10.3969/j.issn.1002-2481.2023.10.02

By:

王拴锁;
徐晨阳;
陈佳;
宋惠霞

Publication type:

Article

A nonsense germline mutation in the LPL gene in a 1-month-old infant: case report with review of literature.

Published in:

Bulletin of the National Research Centre, 2023, v. 47, n. 1, p. 1, doi. 10.1186/s42269-023-00991-5

By:

Pawal, Pratibla;
Aute, Tukaram

Publication type:

Article

Gene panel analysis of literature-based infertility genes in Sertoli cell-only syndrome patients.

Published in:

Genetics & Applications, 2023, p. 1, doi. 10.31383/ga.vol7iss1ga03

By:

Klarić, Monika Logara;
Žunić, Lucija;
Marić, Tihana;
Trgovec-Greif, Lovro;
Rokić, Filip;
Merkler, Ana;
Belužić, Robert;
Vugrek, Oliver;
Bojanac, Ana Katušić;
Barbalić, Maja

Publication type:

Article

Gene panel analysis of literature-based infertility genes in Sertoli cell-only syndrome patients.

Published in:

Genetics & Applications, 2023, v. 7, n. 1, p. 1, doi. 10.31383/ga.vol7iss1ga03

By:

Klarić, Monika Logara;
Žunić, Lucija;
Marić, Tihana;
Trgovec-Greif, Lovro;
Rokić, Filip;
Merkler, Ana;
Belužić, Robert;
Vugrek, Oliver;
Bojanac, Ana Katušić;
Barbalić, Maja

Publication type:

Article

Genetic Analysis in The F<sub>1</sub> And F<sub>2</sub> Cotton Generations of Diallel Crosses.

Published in:

Annals of Agricultural Science Moshtohor, 2023, v. 61, n. 1, p. 29, doi. 10.21608/ASSJM.2023.279160

By:

Abd El Samad, H. S.;
El Hosary, A. A.;
El-Badawy, M. E.;
Eissa, A. E. M.

Publication type:

Article

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Published in:

Hereditas, 2023, v. 160, n. 1, p. 1, doi. 10.1186/s41065-023-00282-z

By:

Wang, Chenyu;
Lin, Zhaojing;
Yuan, ZhuangZhuang;
Tang, Tieyu;
Fan, Liangliang;
Liu, Yihui;
Wu, Xuan

Publication type:

Article

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 228, doi. 10.3390/jcm9010228

By:

Oziębło, Dominika;
Obrycka, Anita;
Lorens, Artur;
Skarżyński, Henryk;
Ołdak, Monika

Publication type:

Article

Morphogenetic Variability and Hypertension in Ischemic Stroke Patients—Preliminary Study.

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 7, p. 162, doi. 10.3390/jcm7070162

By:

Savic, Milan;
Cvjeticanin, Suzana;
Lazovic, Milica;
Nikcevic, Ljubica;
Nikolic, Dejan

Publication type:

Article

ESTIMATION OF COMPONENTS OF GENETIC VARIANCE USING JINKS-HAYMAN METHOD ANALYSIS ON THE CROP OF FABA BEAN (VICIA FABA L.).

Published in:

International Journal of Agricultural & Statistical Sciences, 2020, v. 16, p. 1897

By:

Abdullah, Raeed Mejbel;
Hasan, Saifuldeen Ahmed

Publication type:

Article

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Published in:

Journal of Neurogenetics, 2024, v. 38, n. 2, p. 35, doi. 10.1080/01677063.2024.2374898

By:

Arlt, Annabelle;
Akova-Öztürk, Esra;
Schirmacher, Anja;
Schlüter, Bernhard;
Rust, Stephan;
Meyer zu Hörste, Gerd;
Wiendl, Heinz;
Wiethoff, Sarah

Publication type:

Article

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.

Published in:

Journal of Neurogenetics, 2023, v. 37, n. 4, p. 124, doi. 10.1080/01677063.2023.2281916

By:

Jeridi, Cyrine;
Rachdi, Amine;
Nabli, Fatma;
Saied, Zacharia;
Zouari, Rania;
Ben Mohamed, Dina;
Ben Said, Mariem;
Masmoudi, Saber;
Ben Sassi, Samia;
Amouri, Rim

Publication type:

Article

A conserved function of Pkhd1l1, a mammalian hair cell stereociliary coat protein, in regulating hearing in zebrafish.

Published in:

Journal of Neurogenetics, 2023, v. 37, n. 3, p. 85, doi. 10.1080/01677063.2023.2187792

By:

Makrogkikas, Stylianos;
Cheng, Ruey-Kuang;
Lu, Hao;
Roy, Sudipto

Publication type:

Article

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.

Published in:

Journal of Neurogenetics, 2021, v. 35, n. 2, p. 74, doi. 10.1080/01677063.2021.1892095

By:

Burke, Elizabeth A.;
Sturgeon, Morgan;
Zastrow, Diane B.;
Fernandez, Liliana;
Prybol, Cameron;
Marwaha, Shruti;
Frothingham, Edward P.;
Ward, Patricia A.;
Eng, Christine M.;
Fresard, Laure;
Montgomery, Stephen B.;
Enns, Gregory M.;
Fisher, Paul G.;
Wolfe, Lynne A.;
Harding, Brian;
Carrington, Blake;
Bishop, Kevin;
Sood, Raman;
Huang, Yan;
Elkahloun, Abdel

Publication type:

Article

Identification and Characterization of a Male Sterile Rapeseed (Brassica napus) Line for Hybrid Seed Production.

Published in:

Plants (2223-7747), 2025, v. 14, n. 9, p. 1397, doi. 10.3390/plants14091397

By:

Shi, Jianghua;
Yu, Huasheng;
Liu, Renhu;
Zhang, Yaofeng;
Fu, Ying;
Wang, Tanliu;
Ni, Xiyuan;
Zheng, Tao;
Zhao, Jianyi

Publication type:

Article

Genetic Analysis and Fine Mapping of Spontaneously Mutated Male Sterility Gene in Chinese Cabbage (Brassica rapa L. ssp. pekinensis).

Published in:

Plants (2223-7747), 2025, v. 14, n. 5, p. 779, doi. 10.3390/plants14050779

By:

Xu, Qian;
Wei, Xiaochun;
Zhao, Yanyan;
Feng, Jianqi;
Wang, Peiyun;
Ding, Cong;
Zhang, Wenjing;
Su, Henan;
Chen, Weiwei;
Wei, Fang;
Yuan, Yuxiang;
Zhang, Xiaowei

Publication type:

Article

An Ethyl Methanesulfonate-Induced GIF1 Splicing Site Mutation in Sesame Is Associated with Floral Malformation and Small Seed Size.

Published in:

Plants (2223-7747), 2024, v. 13, n. 23, p. 3294, doi. 10.3390/plants13233294

By:

Li, Guiting;
Cao, Hengchun;
Ma, Qin;
Ju, Ming;
Wang, Huili;
Tian, Qiuzhen;
Feng, Xiaoxu;
Zhang, Xintong;
Kong, Jingjing;
Zhang, Haiyang;
Miao, Hongmei

Publication type:

Article

Genome-Wide Association Studies and QTL Mapping Reveal a New Locus Associated with Resistance to Bacterial Pustule Caused by Xanthomonas citri pv. glycines in Soybean.

Published in:

Plants (2223-7747), 2024, v. 13, n. 17, p. 2484, doi. 10.3390/plants13172484

By:

Cardoso-Sichieri, Rafaella;
Oliveira, Liliane Santana;
Lopes-Caitar, Valéria Stefania;
Silva, Danielle Cristina Gregório da;
Lopes, Ivani de O. N.;
Oliveira, Marcelo Fernandes de;
Arias, Carlos Arrabal;
Abdelnoor, Ricardo Vilela;
Marcelino-Guimarães, Francismar Corrêa

Publication type:

Article

The ldp1 Mutation Affects the Expression of Auxin-Related Genes and Enhances SAM Size in Rice.

Published in:

Plants (2223-7747), 2024, v. 13, n. 6, p. 759, doi. 10.3390/plants13060759

By:

Sun, Zhanglun;
Mei, Tianrun;
Tan, Xuan;
Feng, Tingting;
Li, Ruining;
Duan, Sumei;
Zhao, Heming;
Ye, Yafeng;
Liu, Binmei;
Zhou, Aifeng;
Ai, Hao;
Huang, Xianzhong

Publication type:

Article

Genetic Diversity of Barley Accessions from East Asia for Greenbug Resistance.

Published in:

Plants (2223-7747), 2023, v. 12, n. 22, p. 3797, doi. 10.3390/plants12223797

By:

Radchenko, Evgeny E.;
Abdullaev, Renat A.;
Akimova, Daria E.;
Anisimova, Irina N.

Publication type:

Article

Fine Mapping and Identification of a Candidate Gene for the Glossy Green Trait in Cabbage (Brassica oleracea var. capitata).

Published in:

Plants (2223-7747), 2023, v. 12, n. 18, p. 3340, doi. 10.3390/plants12183340

By:

Wang, Peiwen;
Li, Ziheng;
Zhu, Lin;
Cheng, Mozhen;
Chen, Xiuling;
Wang, Aoxue;
Wang, Chao;
Zhang, Xiaoxuan

Publication type:

Article

A Frameshift Mutation in the Mg-Chelatase I Subunit Gene OsCHLI Is Associated with a Lethal Chlorophyll-Deficient, Yellow Seedling Phenotype in Rice.

Published in:

Plants (2223-7747), 2023, v. 12, n. 15, p. 2831, doi. 10.3390/plants12152831

By:

Shim, Kyu-Chan;
Kang, Yuna;
Song, Jun-Ho;
Kim, Ye Jin;
Kim, Jae Kwang;
Kim, Changsoo;
Tai, Thomas H.;
Park, Inkyu;
Ahn, Sang-Nag

Publication type:

Article

Chromosomal Location of xa19 , a Broad-Spectrum Rice Bacterial Blight Resistant Gene from XM5, a Mutant Line from IR24.

Published in:

Plants (2223-7747), 2023, v. 12, n. 3, p. 602, doi. 10.3390/plants12030602

By:

Taura, Satoru;
Ichitani, Katsuyuki

Publication type:

Article

Characterization and Transcriptome Analysis of Maize Small-Kernel Mutant smk7a in Different Development Stages.

Published in:

Plants (2223-7747), 2023, v. 12, n. 2, p. 354, doi. 10.3390/plants12020354

By:

Wang, Jing;
Wang, Hongwu;
Li, Kun;
Liu, Xiaogang;
Cao, Xiaoxiong;
Zhou, Yuqiang;
Huang, Changling;
Peng, Yunling;
Hu, Xiaojiao

Publication type:

Article

Volatile Compounds Governed by Single Recessive Gene Impart Aroma in Sponge Gourd (Luffa cylindrica L. Roem).

Published in:

Plants (2223-7747), 2022, v. 11, n. 21, p. 2881, doi. 10.3390/plants11212881

By:

Chaubey, Tribhuvan;
Sagar, Vidya;
Singh, Ramesh Kumar;
Chanotiya, Chandan Singh;
Pandey, Sudhakar;
Singh, Prabhakar M.;
Karmakar, Pradip;
Singh, Jagdish;
Singh, Bijendra;
Singh, Dhananjay Pratap;
Pandey, Koshlendra Kumar;
Behera, Tusar Kanti

Publication type:

Article

Deciphering the Genetic Inheritance of Tocopherols in Indian Mustard (Brassica juncea L. Czern and Coss).

Published in:

Plants (2223-7747), 2022, v. 11, n. 13, p. 1779, doi. 10.3390/plants11131779

By:

Meena, Vijay Kamal;
Taak, Yashpal;
Chaudhary, Rajat;
Chand, Subhash;
Patel, Manoj Kumar;
Muthusamy, Vignesh;
Yadav, Sangita;
Saini, Navinder;
Vasudev, Sujata;
Yadava, Devendra Kumar

Publication type:

Article

Genetic Mapping and Analysis of a Compact Plant Architecture and Precocious Mutant in Upland Cotton.

Published in:

Plants (2223-7747), 2022, v. 11, n. 11, p. 1483, doi. 10.3390/plants11111483

By:

Chao, Lei;
Pan, Zhenyuan;
Wang, Jing;
Wu, Yuanlong;
Shui, Guangling;
Aini, Nurimanguli;
Tang, Binghui;
Guo, Chunping;
Han, Peng;
Shao, Panxia;
Tian, Xiaomin;
Chang, Xinyi;
An, Qiushuang;
Ma, Chunmei;
You, Chunyuan;
Zhu, Longfu;
Nie, Xinhui

Publication type:

Article

Genomic Position and Markers Associated with the Hull-Less Seed Trait in Pumpkin.

Published in:

Plants (2223-7747), 2022, v. 11, n. 9, p. 1238, doi. 10.3390/plants11091238

By:

Meru, Geoffrey;
Fu, Yuqing;
Shrestha, Swati;
Michael, Vincent Njung'e;
Dorval, Marie;
Mainviel, Riphine

Publication type:

Article

Development of the PARMS Marker of the Dominant Genic Male Sterility (DGMS) Line and Its Utilization in Rapeseed (Brassica napus L.) Breeding.

Published in:

Plants (2223-7747), 2022, v. 11, n. 3, p. 421, doi. 10.3390/plants11030421

By:

Li, Zhen;
Yuan, Rong;
Wang, Miao;
Hong, Meiyan;
Zhu, Li;
Li, Xiaofei;
Guo, Ruixing;
Wu, Gang;
Zeng, Xinhua

Publication type:

Article