Microbial-assisted and genomic-assisted breeding: a two way approach for the improvement of nutritional quality traits in agricultural crops

AK Chandra, A Kumar, A Bharati, R Joshi, A Agrawal… - 3 Biotech, 2020 - Springer
Both human and animals, for their nutritional requirements, mainly rely on the plant-based
foods, which provide a wide range of nutrients. Minerals, proteins, vitamins are among the …

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications

G Scorrano, E David, E Calì, R Chimenz, S La Bella… - Genes, 2023 - mdpi.com
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by
multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe …

Utilizing the underutilized plant resources for development of life style foods: putting nutrigenomics to use

RA Mir, M Nazir, S Naik, S Mukhtar, BA Ganai… - Plant Physiology and …, 2022 - Elsevier
Sufficient amount of minerals, vitamins, and proteins in human diet play indispensable role
in maintaining the active metabolism for better human health. All the essential nutrients that …

Megalencephaly capillary malformation syndrome

AD Praticò, A Polizzi, S Salafia… - Journal of Pediatric …, 2018 - thieme-connect.com
Megalencephaly capillary malformation polymicrogyria (MCAP) syndrome is characterized
by the sporadic occurrence of congenital and progressive megalencephaly, brain …

Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders

M Iacomino, N Houerbi, S Fortuna, J Howe… - Frontiers in Molecular …, 2024 - frontiersin.org
The human PLAA gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in
trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA …

Pigmentary mosaicism

JV Schaffer - Clinics in dermatology, 2022 - Elsevier
Pigmentary mosaicism refers to patterned hypo-and/or hyperpigmentation that results from
genetic heterogeneity of skin cells. The most common clinical patterns are streaks and swirls …

Update on the classification and pathophysiological mechanisms of pediatric cardiorenal syndromes

G Ceravolo, TL Macchia, C Cuppari, V Dipasquale… - Children, 2021 - mdpi.com
Cardiorenal syndrome (CRS) is defined as a disorder resulting from the abnormal
interaction between the heart and kidney, in which acute or chronic dysfunction of one organ …

A clinical classification of pigmentary disorders

B Ricciardo, P Kumarasinghe - Pigmentary Skin Disorders, 2018 - Springer
Pigmentary disorders include a large number of heterogeneous conditions that can be
congenital or acquired. In this chapter a clinical approach to the pigmentary disorders is …

An overview of genes involved in the pure joubert syndrome and in joubert syndrome-related disorders (JSRD)

M Amorini, G Iapadre, A Mancuso… - Journal of Pediatric …, 2023 - thieme-connect.com
Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar
brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and …

Becker's nevus syndrome

ME Cucuzza, S Paternò, D Attardo… - Journal of Pediatric …, 2018 - thieme-connect.com
The simultaneous occurrence of a patch of light or dark brown hyperpigmentation with
hypertrichosis (Becker's nevus) together with (usually ipsilateral) soft tissues hypoplasia …