Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p.Gln230*) in family A. In two other families, B and C, sequence analysis of the LPAR6 gene revealed a novel homozygous frameshift variant (c.68_69dupGCAT; p.Phe24Hisfs*29) and a previously reported missense variant (c.188A > T; p.Asp63Val), respectively. Taken together, our findings will expand the spectrum of variants reported in the LIPH and LPAR6 genes.
The chemical compounds extracted from medicinal plants have potential to evoke mental and social sensations in addition to maintain physical health. . Species of Asteraceae and Liliaceae play significant cardiovascular roles irrespective of exploring their toxicological aspects. Carbohydrates, proteins, lipids, nucleotides, fats, and steroids are the primary organic compounds which are involved in metabolism of essential developmental and growth functions of plants. The detrimental effects of environmental stress factors are suppressed by the gene expressions of ion transporters and water channel proteins present in the cell membranes incorporated with the up or downregulation of osmo-proctant osmolytes and essential proteins such as HSP and chaperones. Sunflower (Helianthus annuus L.) is an important crop known for its food, forage, and silage constituents. It is a prominent specie in Asteraceae family. Its seeds are enriched with edible oil-world’s fourth largest oil source. The mineral elements, dietary fibers, and secondary metabolites such as carotenoids, flavonoids, tocopherols, saponins, tannins, alkaloids, chlorogenic acid, caffeic acid, peptides, phytosterols, triterpene glycosides, and vitamins contribute towards nutraceutical roles. Pot marigold (Calendula officinalis) possesses antibiotic, anti-inflammatory, and antifungal properties which allow its applications in preventing muscle spasms, treating sore throat and ulcers of duodenum and stomach, soothing eczema, healing wounds, and relieving rashes.
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