Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine
Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang+4 more
wiley +1 more source
Hereditary ectodermal dysplasia: Report of 11 patients from a family
Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs) in 11 individuals over two generations in one family.
Seema Vaidya+3 more
doaj +1 more source
Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]
Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam+3 more
doaj +1 more source
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia+12 more
core +1 more source
Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal
ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Sobin Pant+4 more
wiley +1 more source
An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases [PDF]
Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically
Akkus, Zeki+9 more
core +2 more sources
Genital Crohn's disease in pediatrics and genetic associations
Abstract Genital edema is a rare presentation of Crohn's disease (CD), also known as metastatic CD (MCD). This may precede, co‐occur with, or follow gastrointestinal symptoms and present a diagnostic challenge. We aimed to characterize the features, clinical courses, pathogenesis, and outcomes of patients with MCD to increase understanding and promote ...
Erica Chang+5 more
wiley +1 more source
A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]
Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano+12 more
core +1 more source
Pigmentary Mosaicism: An Overview
Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal ...
C. Colmant+3 more
wiley +1 more source
La dysplasie ectodermique anhydrotique : à propos d’un cas au Centre Mère et Enfant de la Fondation Chantal Biya, Yaoundé, Cameroun [PDF]
Ectodermal dysplasia are rare genetic diseases characterized by the absence or dysplasia of some tissues of ectodermal origin. We present a case of a young boy seen at the age of seven and a half years for late eruption of teeth, morphologic ...
Chelo David+5 more
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