Results 61 to 70 of about 8,302 (215)

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Functional diversity in agricultural landscapes: evidence of long‐term clustering and multi‐scale effects of land use on avian communities

Oikos, EarlyView.
Functional diversity (FD) is an essential community property connecting biodiversity, ecosystem functioning, and conservation objectives. In agricultural landscapes, avian communities, which play key functional roles, are facing large‐scale biodiversity erosion, largely due to land‐use changes.
Pietro Tirozzi, Olivia Dondina, Valerio Orioli, Luciano Bani   +3 more
wiley   +1 more source

The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis

Journal of Lipid Research, 2023
Peroxisomes are single-membrane bounded organelles that in humans play a dual role in lipid metabolism, including the degradation of very long-chain fatty acids and the synthesis of ether lipids/plasmalogens.
Serhii Chornyi, Rob Ofman, Janet Koster, Hans R. Waterham   +3 more
doaj   +1 more source

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

, 2016
Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects.
A Heimler, A McKenna, A Raas-Rothschild, Alan J Mighell, Alex V Levin, BM Gardner, BS Acharya, C Krause, C Pollak, Chris F Inglehearn, Claire E L Smith, D Tran, HR Waterham, HW Moser, I Ratbi, I Stelzig, James A Poulter, Jenina E Capasso, JM Powers, KR Ong, LH Lima, M Tischkowitz, MA DePristo, MA Maxwell, MA Maxwell, MS Ebberink, MS Ebberink, MS Zaki, N Preuss, O Krysko, P Grant, PI Bader, PL Faust, R Balmer, Reuven Sharony, Roger C Shore, Steven J Brookes, Susan Price, SY Cho, Tamar Ben-Yosef, William G Newman, WY Yik, Y Fujiki   +42 more
core   +1 more source

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders

Disease Models & Mechanisms, 2011
SUMMARY Human peroxisome biogenesis disorders are lethal genetic diseases in which abnormal peroxisome assembly compromises overall peroxisome and cellular function.
Fred D. Mast, Jing Li, Maninder K. Virk, Sarah C. Hughes, Andrew J. Simmonds, Richard A. Rachubinski   +5 more
doaj   +1 more source

Molecular Basis of Proxysomal Disorders in Zellweger Syndrome [PDF]

, 2006
Peroxisomes are organelles present in all eukaryotic cells from yeast to human cells. It is now well known that approximately fifty different biochemical reactions occur within the peroxisome, including synthesis of bile acids, cholesterol, ether ...
Ghaedi, Kamran., Ghasemi, Soraya., Nasiri, Isar., Shafeghati, Yousef., Valian Brojeni, Sadegh.   +4 more
core  

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]

, 2014
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun, Das, Soma, Dempsey, Melissa, Dietz, Harry C, Jones, Marilyn C, Lozada, Anthony   +5 more
core   +3 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata

Journal of Lipid Research, 2012
Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). The predominant form of mammalian GPI contains 1-alkyl-2-acyl phosphatidylinositol (PI), which is generated by lipid remodeling from
Noriyuki Kanzawa, Nobuyuki Shimozawa, Ronald J.A. Wanders, Kazutaka Ikeda, Yoshiko Murakami, Hans R. Waterham, Satoru Mukai, Morihisa Fujita, Yusuke Maeda, Ryo Taguchi, Yukio Fujiki, Taroh Kinoshita   +11 more
doaj   +1 more source