Results 111 to 120 of about 290,347 (229)

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification

, 2011
Congenital microcephaly with intracranial calcification is a rare condition presented in heterogeneous diseases. Here, we report the case of a 1-year-old boy with severe congenital microcephaly and diffuse calcification.
Masayo Kanai, Kazuyuki Nakamura, Mitsuhiro Kato, Ayako Sasaki, Kiyoshi Hayasaka   +4 more
core   +1 more source

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus

Pediatric Dermatology, EarlyView.
ABSTRACT Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder characterized by pruritic, erythematous, and scaly plaques following Blaschko's lines. Known genetic causes include somatic variants in CARD14 and GJA1. In addition, a similar phenotype of congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD ...
Janan Mohamad, Kiril Malovitski, Moshe Giladi, Eylon Sharoni, Nabih Elias, Yarden Feller, Jacob Mashiah, Moran Furman, Ofer Sarig, Eli Sprecher, Liat Samuelov   +10 more
wiley   +1 more source

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness]. [PDF]

Rev Neurol, 2023
Arroyo-Carrera I, Solo de Zaldívar-Tristancho M, García Navas-Núñez VD, Ramajo-Polo A, Gutiérrez-Agujetas M.   +4 more
europepmc   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Virus‐specific alterations in placental structure and transporter expression following maternal arbovirus infection

The Journal of Physiology, EarlyView.
Abstract figure legend Arboviruses induce virus‐specific alterations in placental structure and functional markers. Chikungunya virus (CHIKV) exposure was associated with reduced syncytiotrophoblast and syncytial knot areas, increased cytotrophoblast proliferation (Ki‐67) and thyroid transporter (MCT8) expression, reduced protective (P‐gp and BCRP ...
Cherley B. V. Andrade, Enrrico Bloise, Natália L. Silva, Jair R. S. Braga, Sharton V. A. Coelho, Veronica M. O. Nascimento, Guinever E. Imperio, Camila O. S. Nunes, Antônio J. L. A. Cunha, Marcelo A. Pascoal‐Xavier, Luciana B. Arruda, Arnaldo Prata‐Barbosa, Kristin L. Connor, Tania M. Ortiga‐Carvalho   +13 more
wiley   +1 more source

Digital palatal anthropometry in children with and without congenital zika syndrome-associated microcephaly

Brazilian Dental Science
Objective: To digitally compare palatal linear and angular anthropometry in children with and without congenital zika syndromeassociated microcephaly.
Aliny Bisaia, Eloá Cristina Passucci Ambrosio, Kelly Maria Silva Moreira, Eduarda Cristina de Oliveira Benedito, Thais Marchini Oliveira, Maria Aparecida Andrade Moreira Machado   +5 more
doaj   +1 more source

Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation

Need for developing case definitions and guidelines for data collection, analysis, and presentation for congenital microcephaly as an adverse event following maternal immunisation Congenital microcephaly, also referred to as primary microcephaly due to ...
Kachikis, Alisa, Muñoz, Flor M., Klein, Nicola P., Oleske, James M., Tse Kawai, Alison Tse, Tagbo, Beckie N., Shrestha, Anju, Marshall, Helen, DeSilva, Malini, Nesin, Mirjana, Sell, Erick, Spiegel, Hans, Bardají, Azucena, Brighton Collaboration Congenital Microcephaly Working Group, Heath, Paul T., Eckert, Linda O., Jehan, Fyezah, Kochhar, Sonali, Cutland, Clare L.   +18 more
core  

Ocular Findings in Infants with Microcephaly Caused by Presumed Congenital Infection by Zika Virus in Sergipe

, 2020
This study aims at identifying ocular findings in infants with microcephaly associated with presumed intrauterine infection by ZIKV. A cross-sectional study included 62 outpatient infants with congenital microcephaly, presumably secondary to maternal ...
Roque Pacheco de Almeida, Anne Carolyne Lelis Oliveira Pedroso, Alessandro Santana, Angela Maria da Silva, Maria Luiza Doria Almeida, Isabela Soares Costa, Marco Valadares   +6 more
core   +1 more source