Results 41 to 50 of about 13,996 (241)

The relationship between orofacial clefts and consanguineous marriages: A hospital register-based study in Dharwad, South India

open access: yesJournal of Cleft Lip Palate and Craniofacial Anomalies, 2017
Context: Orofacial cleft (OFC) is one of the common craniofacial malformations. The etiology of these OFCs is multifactorial. One of the etiological factors is consanguinity (marriage between blood relatives).
B R Rajeev   +3 more
doaj   +1 more source

Consanguinity in the Contemporary World [PDF]

open access: yesHuman Heredity, 2014
In medical genetics literature, a consanguineous marriage is usually defined as the union of a couple related as second cousins or closer...
Romeo, Giovanni, Bittles, Alan H
openaire   +3 more sources

Parental Consanguinity and Family History in Relation to Psoriasis and the Role of Sex: A Case-Control Study

open access: yesHuman Heredity
Introduction: Psoriasis is caused by an interplay between intrinsic and extrinsic factors. Parental consanguinity increases homozygosity in the genome of the offspring, which in turn increases disease risk.
Alanood N. AlKhas, Ali H. Ziyab
doaj   +1 more source

A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series

open access: yesFrontiers in Medicine, 2023
Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in COL4A3, COL4A4, and COL4A5 genes.
Tinatin Tkemaladze   +5 more
doaj   +1 more source

Consanguineous marriages, and the relationship between consanguineous

open access: yes, 2011
Consanguineous marriages are common in Turkey. The rates and types of consanguineous marriages, and their relationship to abortions and infant mortality were investigated in Acipayam, a rural area of Denizli, Turkey. 795 families were interviewed using a pre-designed questionnaire. The total prevalence of consanguineous marriages is 17.5%.
Keskin, N, Bozkurt, AI, Keskin, A
openaire   +2 more sources

Natural Killer Cells in Paediatric Soft Tissue Sarcomas: A Systematic Review

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Paediatric soft tissue sarcomas (pSTS) are a rare and heterogeneous group of malignant tumours arising in tissues of mesenchymal origin. The role of natural killer (NK) cells in pSTS remains poorly understood, with evidence fragmented across small preclinical studies and early‐phase clinical trials.
Raya Dean   +7 more
wiley   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

open access: yesFEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes   +4 more
wiley   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

open access: yesFEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

Papillon-Lefevre Syndrome In An Adolescent Female: A Case Study [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2015
Papillon-Lefevre Syndrome (PLS) is a rare inherited autosomal-recessive condition with one-third of the patients’ showing consanguinity of the parents. Lesions are characterised by palmar-plantar hyperkeratosis and hyperhidrosis.
M.J. Jijin   +4 more
doaj   +1 more source

Consanguinity and Dysmorphology in Arabs [PDF]

open access: yesHuman Heredity, 2014
Incidence rates of congenital disorders among the 350 million inhabitants of Arab countries could be influenced via the people's demographic and cultural characteristics. Arabs usually marry at a young age and have large families. They share certain core cultural values and beliefs, with the family accepted as the central structure of society ...
Lihadh, Al-Gazali, Hanan, Hamamy
openaire   +2 more sources

Home - About - Disclaimer - Privacy