5 Works

Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Lin Li, Xiaodong Jiao, Ilaria D’Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A. Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, V. Gaurav Harlalka, Michel Michaelides, Anthony T. Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R. Lupski … & Frans P. M. Cremers
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN KO in zebrafish was lethal 11 days post...

Data from: Genome-wide SNP data revealed the extent of linkage disequilibrium, persistence of phase and effective population size in purebred and crossbred buffalo populations

Tingxian Deng, Aixin Liang, Jiajia Liu, Guohua Hua, Tingzhu Ye, Shenhe Liu, Giuseppe Campanile, Graham Plastow, Chunyan Zhang, Zhiquan Wang, Angela Salzano, Bianca Gasparrini, Martina Cassandro, Hasan Riaz, Xianwei Liang, Liguo Yang & Martino Cassandro
Linkage disequilibrium (LD) is a useful parameter for guiding the accuracy and power of both genome-wide association studies (GWAS) and genomic selection (GS) among different livestock species. The present study evaluated the extent of LD, persistence of phase and effective population size (Ne) for the purebred (Mediterranean buffalo; n=411) and crossbred [Mediterranean × Jianghan × Nili-Ravi buffalo, n=9; Murrah × Nili-Ravi × local (Xilin or Fuzhong) buffalo, n=36] buffalo populations using the 90K Buffalo SNP...

Data from: Novel acridine-based thiosemicarbazones as “turn-on” chemosensors for selective recognition of fluoride anion: a spectroscopic and theoretical study

Ibanga Okon Isaac, Iqra Munir, Mariya Al-Rashida, Syed Abid Ali, Zahid Shafiq, Muhammad Islam, Ralf Ludwig, Khurshid Ayub, Khalid Mohammed Khan & Abdul Hameed
New thiosemicarbazide linked acridines 3a-c were prepared and investigated as chemosensors for the detection of biologically and environmentally important anions. The compounds 3a-c were found selective for fluoride (Fˉ) with no affinity for other anions i.e. ˉOAc, Brˉ, Iˉ, HSO4ˉ, SO4ˉ2, PO4ˉ3, ClO3ˉ, ClO4ˉ, CNˉ, and SCNˉ. Further, upon the gradual addition of fluoride anion (Fˉ) source (TBAF), a well-defined change in color of solution of probes 3a-c was observed. The anion sensing process was...

Data from: New insights on water buffalo genomic diversity and post-domestication migration routes from medium density SNP chip data

Licia Colli, Marco Milanesi, Elia Vajana, Daniela Iamartino, Lorenzo Bomba, Francesco Puglisi, Marcello Del Corvo, Ezequiel Luis Nicolazzi, Sahar Saad El-Din Ahmed, Jesus Rommel V. Herrera, Libertado Cruz, Shuju Zhang, Aixin Liang, Gouhua Hua, Ligou Yang, Xingjie Hao, Fuyuan Zuo, Song-Jia Lai, Shuilian Wang, Ruyu Liu, Yundeng Gong, Mahdi Mokhber, Yongjiang Mao, Feng Guan, Augustin Vlaic … & Liguo Yang
The domestic water buffalo is native to the Asian continent but through historical migrations and recent importations, nowadays has a worldwide distribution. The two types of water buffalo, i.e., river and swamp, display distinct morphological and behavioral traits, different karyotypes and also have different purposes and geographical distributions. River buffaloes from Pakistan, Iran, Turkey, Egypt, Romania, Bulgaria, Italy, Mozambique, Brazil and Colombia, and swamp buffaloes from China, Thailand, Philippines, Indonesia and Brazil were genotyped with...

Data from: Dual tree complex wavelet transform based signal denoising method exploiting neighbourhood dependencies and goodness of fit test

Khuram Naveed, Bisma Shaukat & Naveed Ur Rehman
A novel signal denoising method is proposed whereby goodness of fit (GOF) test in combination with a majority classifications based neighbourhood filtering is employed on complex wavelet coefficients obtained by applying dual tree complex wavelet transform (DTCWT) on a noisy signal. The DT-CWT has proven to be a better tool for signal denoising as compared to the conventional discrete wavelet transform (DWT) owing to its approximate translation invariance. The proposed framework exploits statistical neighbourhood dependencies...

Registration Year

  • 2018
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Resource Types

  • Dataset
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Affiliations

  • COMSATS Institute of Information Technology
    5
  • Huazhong Agricultural University
    2
  • University of Padua
    1
  • University of Adelaide
    1
  • Sao Paulo State University
    1
  • Royal Zoological Society of Antwerp
    1
  • University of the Punjab
    1
  • University of Alberta
    1
  • University of California, San Diego
    1
  • Radboud University Nijmegen
    1