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Sulman Basit Ghazanfar Ali Naveed Wasif Muhammad Ansar Wasim Ahmad 《Human genetics》2010,128(2):213-220
Hereditary hypotrichosis is a heterogeneous group of inherited hair loss disorders characterized by diffused or localized
thinning or absence of hair affecting scalp, eyebrows and eyelashes, and other body parts. Over the past few years, at least
four autosomal dominant and six autosomal recessive forms of hypotrichosis have been described. All these ten forms of hypotrichosis
have been mapped on different human chromosomes and the corresponding genes have been identified in most of these cases. In
the present study, we have described a six-generation Pakistani consanguineous family with an autosomal recessive transmission
of hereditary hypotrichosis. All the five affected individuals of the family showed complete absence of scalp hair and sparse
eyebrows and eyelashes. They were born with complete absence of scalp hairs. Facial hair of beard and mustaches were present
in all the affected adult male individuals. Papules were observed only on scalp of the affected individuals. A scalp biopsy
from an affected individual showed markedly reduced number of hair follicles. Human genome scan using polymorphic microsatellite
markers mapped the disease locus on chromosome 7p21.3–p22.3, flanked by markers D7S1532 and D7S3047. A maximum two-point LOD
score of 4.74 (θ = 0.00) was obtained at marker D7S481. The linkage interval spans 15.69 cM, which corresponds to 6.59 Mb according to the
sequence-based physical map (Build 36.2). Mutation analysis of five potential candidate genes (GNA12, FOXK1, DAGLB, ZNF12, ACTB), located in the linkage interval, did not reveal any functional sequence variant. 相似文献
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Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, deafness, diabetes mellitus and progressive extrapyramidal defects. Mutations in the gene C2orf37 are the cause of Woodhouse-Sakati syndrome. In the present study, a four-generation consanguineous family with clinical manifestations of WSS was ascertained from a remote region of Pakistan. Linkage in the family was tested using microsatellite markers linked to several genes involved in producing WSS related phenotypes. Linkage in the family was established to the gene C2orf37, mapped on chromosome 2q22.3-2q35. DNA sequence analysis revealed a novel splice site mutation involving a homozygous G→A transition in the splice donor site of intron 3 (c.321+1G>A) of C2orf37. This study presents a first report of Woodhouse-Sakati syndrome identified in Pakistani population. 相似文献
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Andrea Armirotti Abdul Basit Natalia Realini Carlo Caltagirone Paola Bossù Gianfranco Spalletta Daniele Piomelli 《Analytical biochemistry》2014
We describe a simple protocol for the preparation and orthogonal hydrophobic/hydrophilic LC–MS/MS analysis of mouse and human plasma samples, which enables the untargeted (“shotgun”) or targeted profiling of hydrophilic, amphipathic, and hydrophobic constituents of plasma metabolome. The protocol is rapid, efficient, and reliable, and offers several advantages compared to current procedures. When applied to a training set of human plasma samples, the protocol allowed for the rapid acquisition of full LogP metabolic profiles in plasma samples obtained from cognitively healthy human subjects and age-matched subjects with mild cognitive impairment or Alzheimer’s disease (n = 15 each). Targeted analyses confirmed these findings, which are consistent with data previously published by other groups. 相似文献
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Juan?Bai Xinhui?Chen Kangfu?Jiang Basit?Zeshan Ping?JiangEmail author 《Virology journal》2014,11(1):226
Background
Encephalomyocarditis virus (EMCV) can cause myocarditis, respiratory failure, reproductive failure, and sudden death in pre-weaned piglets, which has been isolated in China. EMCV VP1 protein was one of the most important structural proteins and played an important role in the protective immunity. In this study, 10 monoclonal antibodies (McAbs) against EMCV VP1 were screened and identified.Results
Epitope mapping results indicated that McAbs (6E11, 7A7, 7C9) specifically recognized the linear epitopes V(2)ENAEK(7), McAbs (1D1, 2A2, 5A1, 5A11, 5G1) recognized the epitope F(19)VAQPVY(25), and McAbs 1G8 and 3A9 recognized P(42)IGAFTVK(49). Protein sequence alignment of VP1 with 16 EMCV isolates indicated that the epitope F(19)VAQPVY(25) was conserved in all the reference strains. The epitopes P(42)IGAFTVK(49) and V(2)ENAEK(7) only had 1 or 2 variable amino acid among the reference strains. The 3D model analysis results showed that these epitopes presented as spheres were shown within the context of the complete particle.Conclusions
In this study, ten McAbs against EMCV VP1 were developed and three B-cells epitopes (2-7aa, 19-25aa and 42-49aa) were defined in VP1. All the results herein will promote the future investigations into the function of VP1 of EMCV and development of diagnostic methods of EMCV.46.
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Abdul Basit Muhammad Farhan Mureed Abbas Yong Wang De-Gang Zhao Amin U. Mridha Abdel Rehman Mohammad Said Al-tawaha Muhammad Amjad Bashir Muhammad Arif Sohail Ahmed Reem Atalla Alajmi Dina M. Metwally Manal El- Khadragy 《Saudi Journal of Biological Sciences》2021,28(6):3242-3248
Tomato aphid (Myzus persicae) is a destructive insect pest of tomato responsible for huge losses in the production as well in the vegetable industry. In the present in vitro study two protein elicitors, PeaT1 and PeBL1 were considered to study their efficacies to exhibit defense response against tomato aphid. Three different concentrations of both protein elicitors were applied on the tomato seedlings. After the application of PeaT1 and PeBL1, population growth rates of tomato aphid were decreased as compared to the control treatment. In host preference assay, the tomato aphid showed a preference to build a colony on the control as compared to the treated tomato plant, because tomato leaves provided hazardous surface for aphid after the formation of wax and trichome. The concentrations of protein showed significant (p < 0.05) results in life-history traits of the aphid. Jasmonic acid (JA), salicylic acid (SA) and ethylene (ET) showed significant accumulation in tomato seedlings treated with PeaT1 and PeBL1. Elicitors treated plants produced resistance against M. persicae. Our finding suggests that PeaT1 and PeBL1 have shown high potentials against the damage of M. persicae, and both elicitors could be used as novel biological tools against tomato aphid. 相似文献
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Khan Ranjha Ye Jingwei Yousaf Ayesha Shah Wasim Aftab Ayesha Shah Basit Zaman Qamar Zubair Muhammad Shi Qinghua Jiang Xiaohua 《Molecular biology reports》2020,47(7):5207-5213
Molecular Biology Reports - Thousands of genes are involved in spermatogenesis, however, the functional roles of most these genes for male fertility remain to be discovered. This research focused... 相似文献
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Saadullah Khan Imran Ullah Irfanullah Muhammad Touseef Sulman Basit Muhammad Nasim Khan Wasim Ahmad 《Gene》2013
Bardet–Biedl syndrome (BBS) is an autosomal recessive disorder resulting from structural and functional defects in numerous organs. Frequent manifestations reported in the syndrome include obesity, renal dysplasia, cognitive impairment, postaxial polydactyly, pigmentary retinal degeneration and hypogonadism. To date, 17 genes causing BBS have been identified. Two of these BBS1 and BBS10 are the most frequently mutated genes. 相似文献