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Article
Impact of background colorations on growth, movement behavior, and some body physiological factors of Nile tilapia, Oreochromis niloticus
This study tested the reverence of background color with growth, movement behavior, and some body physiological factors in Nile tilapia. Fish were first acclimatized for two weeks in 80 L glass aquaria. In the...
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Article
Immunological characterization of chitosan adjuvanted outer membrane proteins of Salmonella enterica serovar Typhi as multi-epitope typhoid vaccine candidate
Outer membrane proteins (OMPs) of Gram-negative bacteria have been known as potential vaccine targets due to their antigenic properties and host specificity. Here, we focused on the exploration of the immunoge...
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Article
Circadian Variation in Activities of Blackbuck Under Captivity in Punjab, Pakistan
Blackbucks (Antilope cervicapra) are extinct in the wild in Pakistan and are maintained in captivity at diverse places. The present study reports the behavior of a herd of blackbucks (40 individuals in 2–4 random...
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Article
Open AccessEvaluation of mental health and anxiety level among hepatitis C patients during COVID-19 pandemic in Pakistan
This study was conducted to check anxiety level and mental stress in the 200 confirmed hepatitis C patients during the COVID-19 pandemic. The Chinese version of the Beck Anxiety Inventory (BAI) score index was...
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Article
Open AccessPutative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease
Rare variants in the beta-glucocerebrosidase gene (GBA1) are common genetic risk factors for alpha synucleinopathy, which often manifests clinically as GBA-associated Parkinson’s disease (GBA-PD). Clinically, GBA...
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Article
The role of garlic oil in the amelioration of oxidative stress and tissue damage in rohu Labeo rohita treated with silver nanoparticles
Aquatic contamination with silver nanoparticles (Ag-NPs) can cause toxicity in target organisms that are directly exposed to them. Oxidative stress and tissue alterations are potential endpoints of Ag-NPs toxi...
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Article
Open AccessSegregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism
Atypical parkinsonian disorders (APDs) comprise a group of neurodegenerative diseases with heterogeneous clinical and pathological features. Most APDs are sporadic, but rare familial forms have also been repor...
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Article
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Hair follicle miniaturization is a degenerative process that reduces the dimensions of the epithelial and mesenchymal cell compartments, converting thick hair to fine, downy hair. It is most commonly observed ...
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Article
Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
The genetic determinants of hair texture in humans are largely unknown. Several human syndromes exist in which woolly hair comprises a part of the phenotype; however, simple autosomal recessive inheritance of ...
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Article
Open AccessSynpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences
Type II syndactyly or synpolydactyly (SPD) is clinically very heterogeneous, and genetically three distinct SPD conditions are known and have been designated as SPD1, SPD2 and SPD3, respectively. SPD1 type is ...
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Article
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia
Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determ...
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Article
A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3
Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. Autosomal recessive (AR) forms of prelingual HI account for ~75% of cases with a genetic etiology. A novel AR non-syndromic HI locus (D...
