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Birt-hogg-dube

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https://www.readbyqxmd.com/read/29897930/loss-of-fnip1-alters-kidney-developmental-transcriptional-program-and-synergizes-with-tsc1-loss-to-promote-mtorc1-activation-and-renal-cyst-formation
#1
Ryan Centini, Mark Tsang, Terri Iwata, Heon Park, Jeffrey Delrow, Daciana Margineantu, Brandon M Iritani, Haiwei Gu, H Denny Liggitt, Janella Kang, Lim Kang, David M Hockenbery, Daniel Raftery, Brian M Iritani
Birt-Hogg-Dube' Syndrome (BHDS) is a rare genetic disorder in humans characterized by skin hamartomas, lung cysts, pneumothorax, and increased risk of renal tumors. BHDS is caused by mutations in the BHD gene, which encodes for Folliculin, a cytoplasmic adapter protein that binds to Folliculin interacting proteins-1 and -2 (Fnip1, Fnip2) as well as the master energy sensor AMP kinase (AMPK). Whereas kidney-specific deletion of the Bhd gene in mice is known to result in polycystic kidney disease (PKD) and renal cell carcinoma, the roles of Fnip1 in renal cell development and function are unclear...
2018: PloS One
https://www.readbyqxmd.com/read/29891694/impairment-of-gamma-glutamyl-transferase-1-activity-in-the-metabolic-pathogenesis-of-chromophobe-renal-cell-carcinoma
#2
Carmen Priolo, Damir Khabibullin, Ed Reznik, Harilaos Filippakis, Barbara Ogórek, Taylor R Kavanagh, Julie Nijmeh, Zachary T Herbert, John M Asara, David J Kwiatkowski, Chin-Lee Wu, Elizabeth P Henske
Chromophobe renal cell carcinoma (ChRCC) accounts for 5% of all sporadic renal cancers and can also occur in genetic syndromes including Birt-Hogg-Dube (BHD) and tuberous sclerosis complex (TSC). ChRCC has a distinct accumulation of abnormal mitochondria, accompanied by characteristic chromosomal imbalances and relatively few "driver" mutations. Metabolomic profiling of ChRCC and oncocytomas (benign renal tumors that share pathological features with ChRCC) revealed both similarities and differences between these tumor types, with principal component analysis (PCA) showing a distinct separation...
June 11, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29774133/sporadic-renal-angiomyolipoma-in-a-patient-with-birt-hogg-dub%C3%A3-chaperones-in-pathogenesis
#3
Rebecca A Sager, Mark R Woodford, Oleg Shapiro, Mehdi Mollapour, Gennady Bratslavsky
Birt-Hogg-Dubé (BHD) is an autosomal dominant genetic syndrome caused by germline mutations in the FLCN gene that predisposes patients to develop renal tumors. Renal angiomyolipoma (AML) is not a renal tumor sub-type associated with BHD. AML is, however, a common phenotypic manifestation of Tuberous Sclerosis Complex (TSC) syndrome caused by mutations in either the TSC1 or TSC2 tumor suppressor genes. Previous case reports of renal AML in patients with BHD have speculated on the molecular and clinical overlap of these two syndromes as a result of described involvement of the gene products in the mTOR pathway...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29767721/bhd-associated-kidney-cancer-exhibits-unique-molecular-characteristics-and-a-wide-variety-of-variants-in-chromatin-remodeling-genes
#4
Hisashi Hasumi, Mitsuko Furuya, Kenji Tatsuno, Shogo Yamamoto, Masaya Baba, Yukiko Hasumi, Yasuhiro Isono, Kae Suzuki, Ryosuke Jikuya, Shinji Otake, Kentaro Muraoka, Kimito Osaka, Narihiko Hayashi, Kazuhide Makiyama, Yasuhide Miyoshi, Keiichi Kondo, Noboru Nakaigawa, Takashi Kawahara, Koji Izumi, Junichi Teranishi, Yasushi Yumura, Hiroji Uemura, Yoji Nagashima, Adam R Metwalli, Laura S Schmidt, Hiroyuki Aburatani, W Marston Linehan, Masahiro Yao
Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. In order to clarify molecular pathogenesis of BHD-associated kidney cancer, we conducted whole-exome sequencing analysis using next-generation sequencing technology as well as metabolite analysis using LC/MS and GC/MS...
May 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29764481/a-total-pleural-covering-of-absorbable-cellulose-mesh-prevents-pneumothorax-recurrence-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#5
Teruaki Mizobuchi, Masatoshi Kurihara, Hiroki Ebana, Sumitaka Yamanaka, Hideyuki Kataoka, Shouichi Okamoto, Etsuko Kobayashi, Toshio Kumasaka, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pulmonary cysts are innumerable and widely dispersed and cannot all be removed. We recently described a total pleural covering (TPC) that covers the entire visceral pleura with oxidized regenerated cellulose (ORC) mesh. TPC successfully prevented the recurrence of pneumothorax in LAM patients...
May 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29744825/adult-type-rhabdomyoma-of-the-larynx-in-birt-hogg-dub%C3%A3-syndrome-evidence-for-a-real-association
#6
Ramkishan Balakumar, Matthew R B Farr, Malee Fernando, Ala Jebreel, Jaydip Ray, Sara Sionis
The autosomal dominant Birt-Hogg-Dubé syndrome is known to be associated with skin, lung and kidney lesions. It is caused by heterozygous germline mutations in the folliculin gene and has a high penetrance. We report the case of a 51 year old woman with Birt-Hogg-Dubé syndrome who presented with a laryngeal mass. Imaging confirmed a mass centered on the piriform sinus and following excision histological examination confirmed the lesion was composed of polygonal cells with abundant eosinophilic cytoplasm consistent with a rhabdomyoma...
May 9, 2018: Head and Neck Pathology
https://www.readbyqxmd.com/read/29720200/splice-site-mutation-causing-partial-retention-of-intron-in-the-flcn-gene-in-birt-hogg-dub%C3%A3-syndrome-a-case-report
#7
Mitsuko Furuya, Hironori Kobayashi, Masaya Baba, Takaaki Ito, Reiko Tanaka, Yukio Nakatani
BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site mutations have been reported, and previous studies have confirmed exon skipping in several cases. However, it is poorly understood whether there are any splice-site mutations that cause translation of intron regions in FLCN...
May 2, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29719489/renal-manifestation-of-birt-hogg-dub%C3%A3-syndrome-depicted-by-18f-fludeoxyglucose-positron-emission-tomography-computed-tomography-in-a-patient-with-hurtle-cell-thyroid-malignancy
#8
Emmanouil Panagiotidis, Nagabhushan Seshadri, Sobhan Vinjamuri
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant genetic disorder characterized by small papular skin lesions (fibrofolliculomas) causing susceptibility to kidney cancer, renal and pulmonary cysts, spontaneous pneumothoraces, and several noncutaneous tumors. We report a case of a 67-year-old woman, with a previous history of right hemithyroidectomy for adenomatous lesion. She presented with a swelling in the right thyroid bed that on subsequent biopsy revealed features of metastatic carcinoma. 18F-fludeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) performed for the detection of primary malignancy showed increased high-grade metabolic activity in the right supraclavicular soft tissue mass extending into the superior mediastinum...
April 2018: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29684959/-a-case-of-chromophobe-renal-cell-carcinoma-associated-with-birt-hogg-dub%C3%A3-syndrome
#9
Yoichiro Tohi, Noriyuki Makita, Issei Suzuki, Ryosuke Suzuki, Arinobu Fukunaga, Masashi Kubota, Takashi Matsuoka, Yoshio Sugino, Koji Inoue, Keiichiro Uehara, Yukihiro Imai, Mutsushi Kawakita
A 61-year-old man with a left renal mass, which was detected by ultrasound during a routine health examination, was referred to our department. The patient had a surgical history of two pneumothorax operations, and the patient's brother also had a history of pneumothorax surgery. A case of Birt-Hogg-Dubé (BHD) syndrome was suspected based on patient history. The pathological diagnosis of the resected tumor, which used robot-assisted laparoscopic partial nephrectomy, was determined to be chromophobe renal cell carcinoma (grade 2, pT1a)...
March 2018: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/29680948/hereditary-renal-cell-carcinoma-syndromes-diagnosis-surveillance-and-management
#10
REVIEW
Eamonn R Maher
PURPOSE: Genetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC), with around 3% of cases having a family history. A greater knowledge of the genetics of inherited RCC has the potential to translate into novel therapeutic targets for sporadic RCC. METHODS: A literature review was performed summarising the current knowledge on hereditary RCC diagnosis, surveillance and management. RESULTS: Familial RCC is usually inherited in an autosomal dominant manner, although inherited RCC may present without a relevant family history...
April 21, 2018: World Journal of Urology
https://www.readbyqxmd.com/read/29669049/familial-birt-hogg-dub%C3%A3-syndrome
#11
Christopher McDermott, John Cullen
No abstract text is available yet for this article.
April 14, 2018: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29548312/delayed-diagnosis-of-birt-hogg-dub%C3%A3-syndrome-due-to-marked-intrafamilial-clinical-variability-a-case-report
#12
E C Sattler, O K Steinlein
BACKGROUND: Birt-Hogg-Dubé syndrome is a genetic syndrome caused by mutations in the FLCN gene. The main symptoms are lung bullae and pneumothorax, benign and malignant kidney tumors, and facial fibrofolliculoma. The risk of pneumothorax is considerable between ages 20-40 years, but decreases markedly after this age range and first-time pneumothorax after age 50 years is rare. Fibrofolliculomas usually occur between ages 35 and 45 years, while the risk for kidney cancer increases steadily with age, starting in young adulthood...
March 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29537177/birt-hogg-dub%C3%A3-syndrome-an-underdiagnosed-genetic-tumor-syndrome
#13
REVIEW
Ortrud K Steinlein, Birgit Ertl-Wagner, Thomas Ruzicka, Elke C Sattler
Birt-Hogg-Dubé syndrome (BHD, also referred to as Hornstein-Knickenberg syndrome) is an autosomal dominant tumor syndrome caused by mutations in the FLCN gene located on chromosome 17. Depending on their age, patients with BHD may exhibit various clinical signs and symptoms. Disease severity can vary greatly among members of the same family. Early symptoms include basal lung cysts, which can lead to recurrent spontaneous pneumothoraces. The majority of patients (> 90 %) develop multiple fibrofolliculomas, especially on the face and upper trunk, in the second or third decade of life...
March 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/29537155/birt-hogg-dub%C3%A3-syndrom-ein-zu-selten-diagnostiziertes-erbliches-tumorsyndrom
#14
REVIEW
Ortrud K Steinlein, Birgit Ertl-Wagner, Thomas Ruzicka, Elke C Sattler
Das Birt-Hogg-Dubé-Syndrom (BHD-Syndrom, eigentlich Hornstein-Knickenberg- Syndrom) ist ein autosomal dominant erbliches Tumorsyndrom, welches durch Mutationen im FLCN-Gen auf Chromosom 17 verursacht wird. Patienten mit BHD-Syndrom können altersabhängig verschiedene Symptome zeigen, deren Ausprägung auch innerhalb einer Familie unterschiedlich schwer sein kann. Ein frühes Symptom sind basal betonte Lungenzysten, welche Ursache wiederholter Spontanpneumothoraces sein können. Die Mehrheit der Patienten (> 90 %) entwickelt im mittleren Lebensalter zahlreiche Fibrofollikulome vor allem im Gesicht und am Oberkörper...
March 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/29469743/treatment-of-selective-antibody-deficiency-with-ivig-resulting-in-decreased-frequency-of-streptococcal-infection-and-improvement-of-guttate-psoriasis
#15
Maulik M Dhandha, Elaine C Siegfried, Alan P Knutsen
The association between guttate psoriasis and infection with group A Streptococcus (GAS) has been well established in the medical literature. However, responses to treatments aimed at GAS eradication such as systemic antibiotics or tonsillectomy are inconsistent. Further complicating treatment recommendations for a disease with a suspected microbial trigger, the standard therapy for severe psoriasis is with systemic immunosuppressant medications. This case report illustrates the role of GAS as a trigger for acute onset severe psoriasis in a child whose skin disease initially worsened with a trial of methotrexate...
August 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29454577/morphological-clues-to-the-appropriate-recognition-of-hereditary-renal-neoplasms
#16
REVIEW
Holger Moch, Riuko Ohashi, Jatin S Gandhi, Mahul B Amin
An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma...
May 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29439288/childhood-pneumothorax-in-birt-hogg-dub%C3%A3-syndrome-a-cohort-study-and-review-of-the-literature
#17
Marianne Geilswijk, Elisabeth Bendstrup, Mia Gebauer Madsen, Mette Sommerlund, Anne-Bine Skytte
BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported. METHODS: To explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families...
February 13, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29397232/recurrent-spontaneous-pneumothorax-as-a-manifestation-of-birt-hogg-dube-syndrome
#18
Juan J Fibla Alfara, Laureano Molins López-Rodó, Jorge Hernández Ferrández, Angela Guirao Montes
No abstract text is available yet for this article.
January 31, 2018: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/29393029/-birt-hogg-dub%C3%A3-syndrome-is-a-rare-but-important-cause-of-pneumothorax
#19
Laurits Frøssing, Lars Pedersen, Saher Shaker
Birt-Hogg-Dubé syndrome (BHD) is an autosomal-dominant genodermatosis manifesting as a multisystemic disorder. The most common presentation of pulmonary involvement is spontaneous pneumothorax, and it has recently been estimated, that up to 5-10% of patients with primary spontaneous pneumothorax have underlying BHD. The purpose of this case report is to stress the paramount importance of a thorough family history in patients with spontaneous pneumothorax and to recommend, that patients with a spontaneous pneumothorax and a personal or family history of pneumothorax should be screened for BHD...
January 29, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29357828/birt-hogg-dub%C3%A3-syndrome-in-two-chinese-families-with-mutations-in-the-flcn-gene
#20
Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang, Hong Jiang
BACKGROUND: Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer. METHODS: Genomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Genetic analysis was performed by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations of these two families...
January 22, 2018: BMC Medical Genetics
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