Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies
نویسندگان
چکیده
منابع مشابه
Canine Brachycephalic Airway Syndrome: Pathophysiology, Diagnosis, and Nonsurgical Management Canine brachycephalic airway syndrome (BAS), also known as brachycephalic syndrome and brachycephalic airway obstructive
Canine brachycephalic airway syndrome is a progressive disease that affects many brachycephalic dogs. This article describes the components of this syndrome and focuses on acute emergency management and long-term conservative management of these patients. Surgical management is described in a companion article. Canine Brachycephalic Airway Syndrome: Pathophysiology, Diagnosis, and Nonsurgical M...
متن کاملCanine brachycephalic airway syndrome: surgical management.
Many surgical options have been described to treat various aspects of canine brachycephalic airway syndrome (BAS). This article describes the surgical management, postoperative care, and prognosis of this condition. The pathophysiology and medical therapy of BAS are described in a companion article.
متن کاملGlottic and skull indices in canine brachycephalic airway obstructive syndrome
BACKGROUND Forty dogs presented for brachycephalic airway obstructive syndrome with laryngeal collapse not over 1st degree (saccule eversion) underwent glottis endoscopic and radiographic skull measurements before surgery. Fifteen Pugs, fifteen French and ten English Bulldogs were included. The goals were prospectively to compare three common brachycephalic breeds for anatomical differences reg...
متن کاملMorphological Features of Adult Rats of IS/Kyo and IS-Tlk/Kyo Strains with Lumbar and Caudal Vertebral Anomalies
IS-Tlk/Kyo, a mutant derived from IS/Kyo strain, exhibits a kinked and/or short tail, in addition to the congenital lumbar vertebral anomaly. Homozygotes of Tlk dominant gene are known to die during embryonic development. We previously reported the morphological features of the skeleton in IS/Kyo and IS-Tlk/Kyo fetuses and of the heart in IS/Kyo fetuses [19]. This study was conducted to clarify...
متن کاملA PTG Variant Contributes to a Milder Phenotype in Lafora Disease
Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that may contribute to the clinical course of Lafora disease patients with EPM2A or EPM2B mutations. We established a list of 43 genes coding for prote...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2021
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-021-02261-8