Ask about this productRelated genes to: TMEM67 antibody
- Gene:
- TMEM67 NIH gene
- Name:
- transmembrane protein 67
- Previous symbol:
- MKS3
- Synonyms:
- MGC26979, JBTS6, NPHP11
- Chromosome:
- 8q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-08-04
- Date modifiied:
- 2019-04-23
Related products to: TMEM67 antibody
Related articles to: TMEM67 antibody
- Joubert syndrome (JS) is a rare autosomal recessive disorder belonging to the ciliopathies and can cause a series of neurological symptoms after birth. Prenatal diagnosis of this disease is rare, as the results from prenatal ultrasonography for JSRD are relatively nonspecific. Prenatal MRI is usually the preferred diagnostic method. On fetal MRI, it presents as a typical midbrain-hindbrain malformation characterized by the molar tooth sign (MTS). Currently, reports of prenatal MRI diagnosis for JS are rare, with no documented twin gestations. Herein, we report a case of JSRD in a twin pregnancy detected at the 25th gestational week through prenatal MRI, with a review of the etiology, imaging features, and differential diagnosis of JS. - Source: PubMed
Publication date: 2026/03/18
Ren SiluLi AitongYang JiyunZhou LeiLu Tao
- Source: PubMed
- : Tracheobronchopathia osteochondroplastica (TO) is a rare benign disorder characterized by submucosal cartilaginous and osseous nodules of the tracheobronchial tree, typically sparing the posterior membranous wall. Involvement of the vocal cords is exceedingly rare and may result in critical airway obstruction. The underlying genetic and molecular mechanisms of TO remain largely unexplored. : We report a rare case of TO extending from the vocal cords to the bronchi in a 76-year-old man who initially presented with pneumonia and later developed acute respiratory failure due to severe airway narrowing, necessitating emergency tracheostomy. Bronchoscopy and computed tomography revealed diffuse calcified nodules involving the anterior and lateral airway walls, including the subglottic region. Histopathology demonstrated chronic inflammatory cell infiltration with squamous metaplasia. To explore the molecular basis of this condition, whole-genome sequencing (WGS) was performed using peripheral blood samples-the first such application in TO. WGS identified 766 germline mutations (including 27 high-impact variants) and 66 structural variations. Candidate genes were implicated in coagulation and inflammation (), arachidonic acid metabolism and extracellular matrix remodeling (), ciliary dysfunction and mineralization (), vascular calcification (), smooth muscle function (), abnormal calcification (), fibrotic signaling (), and mucosal barrier integrity (). Notably, despite systemic germline mutations, calcification was restricted to the airway. : This case highlights that TO with vocal cord involvement can progress beyond a benign course to cause life-threatening airway obstruction. Integrating clinical, histological, and genomic findings, we propose a novel pathophysiological model in which systemic genetic susceptibility interacts with local immune cell infiltration and fibroblast-driven extracellular matrix remodeling, resulting in airway-restricted dystrophic calcification. This first genomic characterization of TO provides new insights into its pathogenesis and suggests that multi-omics approaches may enable future precision medicine strategies for this rare airway disease. - Source: PubMed
Publication date: 2026/01/09
Park YeonheeLee Joo-EunLim Mi JungKang Hyeong SeokChung Chaeuk - mutations cause the ciliopathies nephronophthisis and Joubert syndrome. Here we show that deletion of ADAMTS9 in the proximal nephron leads to polycystic kidney development in mice. In males, deletion cause kidneys to become highly cystic but remain small without undergoing enlargement, causing early postnatal lethality. Female mice on the other hand, develop cystic kidneys but progress slowly. ADAMTS9 deletion disrupted ciliogenesis by the loss of ciliary transition zone (TZ) protein TMEM67 cleavage, leading to loss of the MKS/B9 module - a key component of the ciliary gate. Functional analysis of all eight ciliopathy patient variants of identified to date, showed TMEM67 C-terminus failed to localize to the transition zone, thus disrupting a key regulatory mechanism in patient renal ciliogenesis. Modeling ADAMTS9-mediated TMEM67 cleavage utilizing our novel TMEM67-cleavage deficient mice revealed loss of TZ formation but not elevated canonical Wnt signaling as the underlying mechanism driving cystogenesis. We show that deletion leads to comparatively intense interstitial collagen deposition, which likely restricts kidney enlargement resulting in the characteristically small kidney phenotype in nephronophthisis and increased immune response. By comparative analysis of four interconnected polycystic kidney models in addition to and deleted kidneys, we identify differential collagen homeostasis is the principle determining factor deciphering cystic kidney size and type. - Source: PubMed
Publication date: 2026/01/05
Fischer SydneyRobert Karyn LAhmed ManuKane Griffin IKavanaugh Matthew AWang WeiTran Pamela VAtukorale Prabhani UNandadasa Sumeda - : The genetic causes of obesity are complex and include diabetes and obesity monogenic syndromes like autosomal recessive Bardet-Biedl syndrome (BBS). Other clinical manifestations of this syndrome include metabolic disorders, polydactyly, retinal dystrophy, and endocrine, urological, and neurological abnormalities. Moreover, isolated clinical manifestations have been described in carriers of heterozygous mutations in BBS genes. On the other hand, Fahr's disease is characterized by the accumulation of calcium deposits in various areas within the brain, leading to neurodegeneration, and the course of the disease is variable. : We present the case of a 21-year-old female with severe obesity, diagnosed at the age of six years. The patient also experienced hypertension, hyperlipidemia, insulin resistance, and polycystic ovarian syndrome. During an MRI examination, hyperintensity in the region of the dentate nuclei and hyperintensity in the globus pallidus were described. NGS (next-generation sequencing) results showed a heterozygous variant in the gene, which revealed the patient to be a carrier of BBS, and a homozygotic variant in the gene, leading to a Fahr's disease diagnosis. However, due to an insufficient number of phenotypic criteria and only one causative variant in the gene, the diagnosis of BBS could not be established. : Attempts to identify the cause of obesity can lead to unexpected results, which can be resolved through collaboration between clinicians of different specialties and the use of NGS molecular testing. The status of being a BBS carrier, which coexists with Fahr's disease, may be a potential contributing factor to severe obesity and metabolic disorders in the patient. - Source: PubMed
Publication date: 2025/11/26
Piekarska KatarzynaOczoś PaulinaGrzybowska-Adamowicz JuliaZmysłowska-Polakowska EwaPietrusiński MichałZmysłowska Agnieszka