Results 81 to 90 of about 2,017,631 (280)

First report of Griscelli syndrome from Afghan population in IRAN

Journal of Research in Medical Sciences, 2008
<ul> <li>A 4 month old Afghan male infant presented with partial albinism, hepatosplenomegaly and pancytopenia. Skin and hair shaft microscopic examination revealed large clumped melanosomes and Griscelli syndrome was diagnosed.
Shirin Sayyahfar, Abdollah Karimi, Alireza Fahimzad, Javad Ghorubi, Atoosa Gharib, Shahnaz Armin   +5 more
doaj  

Griscelli syndrome Type 2: A report of rare case

Clinical Dermatology Review, 2017
Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin. Three different types (1–3) caused by mutation in three different genes have been described.
Chandramohan Kudligi, Pradeep Vittal Bhagwat, Mary Zothanpuii Chhangte, Vidya Kuntoji, Sujata Giriyan, Veena Andanappanavar   +5 more
doaj   +1 more source

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). [PDF]

PLoS ONE, 2014
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an
Vadieh Ghodsinejad Kalahroudi, Behnam Kamalidehghan, Ahoura Arasteh Kani, Omid Aryani, Mahdi Tondar, Fatemeh Ahmadipour, Lip Yong Chung, Massoud Houshmand   +7 more
doaj   +1 more source

Microspore embryogenesis in barley: anther pre-treatment stimulates plant defence gene expression [PDF]

Microspore embryogenesis (ME) is a process in which the gametophytic pollen programme of the microspore is reorientated towards a new embryo sporophytic programme.
Boutilier, K.A., Devaux, P., Jacquard, C., Mazeyrat-Gourbeyre, F.   +3 more
core   +2 more sources

Delousing performance of ballan wrasse (Labrus bergylta) and lumpfish (Cyclopterus lumpus): seasonal consistency and the challenge of cryptic lice for lumpfish

Pest Management Science, EarlyView.
Ballan wrasse and lumpfish effectively reduce sea lice on salmon year round, although lumpfish struggle with cryptic lice, highlighting new considerations for lice management. Abstract BACKGROUND Cleaner fish play a crucial role in controlling caligid sea lice in Atlantic salmon aquaculture across the North Atlantic.
Adam Jonathan Brooker, Andrew Davie, David Bassett, Sally Boyd, Hervé Migaud   +4 more
wiley   +1 more source

Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

Indian Journal of Pathology and Microbiology, 2016
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism.
R Rajyalakshmi, R. N. B. Chakrapani
doaj   +1 more source

Students’ Experiences of Teachers’ Ways of Unpacking Visual Representations in the Context of Intermolecular Forces

Science Education, EarlyView.
ABSTRACT This is the third article in a series, emanating from a project that used social semiotics and phenomenography to explore the role visual representations play in the teaching and learning of chemistry. Building on our earlier work that identified five qualitatively different ways that teachers may use to unpack visual representations in their ...
Emelie Patron, Cedric Linder, Jonathan Clark, Susanne Wikman   +3 more
wiley   +1 more source

Molecular insights into the mechanisms of a leaf color mutant in Anoectochilus roxburghii by gene mapping and transcriptome profiling based on PacBio Sequel II

Scientific Reports, 2023
Plants with partial or complete loss of chlorophylls and other pigments are frequently occurring in nature but not commonly found. In the present study, we characterize a leaf color mutant ‘arly01’ with an albino stripe in the middle of the leaf, which ...
Huiming Huang, Hui Zou, Hongting Lin, Yimin Dai, Jiangbo Lin   +4 more
doaj   +1 more source

Global Health Governance Cannot Keep Relying on the Development‐Goals Model to Effectively Address Health Inequalities Around the World

Sustainable Development, EarlyView.
ABSTRACT The Sustainable Development Goals (SDGs) are nearing their end in 2030, and it is highly unlikely that many of the SDGs would be met by the target date. This calls for the urgent need for an upgraded approach or a new strategy from the “development‐goals” model.
Funom Theophilus Makama
wiley   +1 more source

Strip loading in steel fiber reinforced concrete: Experimental and theoretical investigation

Structural Concrete, EarlyView.
Abstract Fiber reinforced concrete is becoming increasingly popular in engineering practice due to its high robustness, post‐cracking behavior, and crack control. For strip loading, as common, for example, in longitudinal joints of tunnel lining segments, the use of fiber reinforced concrete has the potential to reduce conventional reinforcement ...
Fabian Morger, Albin Kenel, Walter Kaufmann   +2 more
wiley   +1 more source