Mahouche-Chergui, Samia Gam-Derouich, Sarra Claire Mangeney Chehimi, Mohamed M
Published in
The American Journal of Human Genetics
This critical review summarizes existing knowledge on the use of diazonium salts as a new generation of surface modifiers and coupling agents for binding synthetic polymers, biomacromolecules, and nanoparticles to surfaces. Polymer grafts can be directly grown at surfaces through the so-called grafting from approaches based on several polymerizatio...
Amiel, Jeanne Espinosa-Parrilla, Yolanda Steffann, Julie Gosset, Philippe Pelet, Anna Prieur, Marguerite Boute, Odile Choiset, Agnès Lacombe, Didier Philip, Nicole
...
Published in
The American Journal of Human Genetics
Hirschsprung disease (HSCR) is a common malformation of neural-crest-derived enteric neurons that is frequently associated with other congenital abnormalities. The SMADIP1 gene recently has been recognized as disease causing in some patients with 2q22 chromosomal rearrangement, resulting in syndromic HSCR with mental retardation, with microcephaly,...
Bredrup, Cecilie Sophie Saunier Oud, Machteld M. Fiskerstrand, Torunn Hoischen, Alexander Brackman, Damien Leh, Sabine M. Midtbø, Marit Filhol, Emilie Christine Bole-Feysot
...
Published in
The American Journal of Human Genetics
A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan defects such as chronic renal failure and retinitis pigmentosa. Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndr...
Baala, Lekbir Romano, Stéphane Khaddour, Rana Sophie Saunier Smith, Ursula M. Audollent, Sophie Ozilou, Catherine Faivre, Laurence Laurent, Nicole Foliguet, Bernard
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Published in
The American Journal of Human Genetics
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a genetically heterogeneous condition with mutations in tw...
Gaignard, Pauline Menezes, Minal Schiff, Manuel Bayot, Aurélien Rak, Malgorzata Ogier de Baulny, Hélène Su, Chen-Hsien Gilleron, Mylene Anne Lombes Abida, Heni
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Published in
The American Journal of Human Genetics
Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive ...
Chiricotto, Mara Melchionna, Simone Derreumaux, Philippe Sterpone, Fabio
Published in
The American Journal of Human Genetics
Computer simulations based on simplified representations are routinely used to explore the early steps of amyloid aggregation. However, when protein models with implicit solvent are employed, these simulations miss the effect of solvent induced correlations on the aggregation kinetics and lifetimes of metastable states. In this work, we apply the m...
Melquiond, Adrien Gelly, Jean-Christophe Mousseau, Normand Philippe Derreumaux
Published in
The American Journal of Human Genetics
Amyloid fibril formation, as observed in Alzheimer's disease and type II diabetes, is currently described by a nucleation-condensation mechanism, but the details of the process preceding the formation of the nucleus are still lacking. In this study, using an activation-relaxation technique coupled to a generic energy model, we explore the aggregati...
Baujat, Geneviève Rio, Marlène Rossignol, Sylvie Sanlaville, Damien Lyonnet, Stanislas Le Merrer, Martine Munnich, Arnold Gicquel, Christine Cormier-Daire, Valérie Colleaux, Laurence
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Published in
The American Journal of Human Genetics
Sotos syndrome is an overgrowth syndrome characterized by pre- and postnatal overgrowth, macrocephaly, advanced bone age, variable degrees of mental retardation, and typical facial features. Defects of the NSD1 gene account for ⩾60% of cases of Sotos syndrome, whereas the disease-causing mechanism of other cases remains unknown. Beckwith-Wiedemann ...
Thomas, Sophie Legendre, Marine Sophie Saunier Bessières, Bettina Alby, Caroline Bonnière, Maryse Toutain, Annick Loeuillet, Laurence Szymanska, Katarzyna Jossic, Frédérique
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Published in
The American Journal of Human Genetics
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN...
Failler, Marion Gee, Heon Yung Krug, Pauline Joo, Kwangsic Halbritter, Jan Belkacem, Lilya Filhol, Emilie Porath, Jonathan D. Braun, Daniela A. Schueler, Markus
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Published in
The American Journal of Human Genetics
Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are involved in the docking and anchoring of the mother centriole to the cellular membrane during ciliogenesis. The molecular composition of DAPs was recently elucidated and mutations in two genes enco...
