Results 41 to 50 of about 54,157 (345)

Studies on Maltese Consanguinity [PDF]

open access: yes, 2003
The possible genetic consequences of consanguinity have been known from ancient times, though different societies have held varying views. Some have encouraged consanguinity as desirable and the classic examples are the sister brother marriages of the ...
Vassallo, Luis A.
core  

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

open access: yes, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F.   +5 more
core   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

open access: yesFEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin   +2 more
wiley   +1 more source

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia

open access: yesJournal of Biochemical and Clinical Genetics, 2021
Background: There is a high rate of consanguinity and related genetic diseases in the general population of Saudi Arabia. Studies have been conducted to address the level of awareness about consanguineous marriages (CM); however, targeted young female ...
Hadil Alahdal   +7 more
doaj   +1 more source

Structural biology of ferritin nanocages

open access: yesFEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

The Economics Of Consanguineous Marriages [PDF]

open access: yesReview of Economics and Statistics, 2006
This paper provides an economic rationale for the practice of consanguineous marriages observed in parts of the developing world. In a model of incomplete marriage markets, dowries are viewed as ex ante transfers made from the bride's family to the groom's family when the promise of ex post gifts and bequests is not credible. Consanguineous unions join
Quy-Toan Do, Sriya Iyer, Shareen Joshi
openaire   +5 more sources

The changing pattern and determinants of declining consanguinity in Jordan during 1990–2012

open access: yesAnnals of Human Biology, 2018
Background: Consanguinity is a deep rooted cultural trait in Jordan. Aim: To examine the patterns and determinants of declining rates of consanguineous marriage in Jordan during 1990–2012 in the context of the changing pattern of socio-economic and ...
M. Mazharul Islam
doaj   +1 more source

Incidence of cleft lip and palate in Gorgan - Northern Iran: An epidemiological study [PDF]

open access: yes, 2012
Objective: Cleft lip with or without cleft palate is the most common orofacial congenital anomaly among live births. This study was carried out to determine the incidence rate of oral clefting in Gorgan, Northern Iran during 2004-2009.
Golalipour, M.J.   +3 more
core   +2 more sources

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

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

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