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1                                              ARPKD is caused by a mutation to PKHD1 and the PCK rat i
2                                              ARPKD is caused by mutations in a single gene PKHD1, whi
3                                              ARPKD should also be considered as a differential diagno
4                                              ARPKD's mild phenotype in murine models versus in humans
5 aphic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARe
6          Yet, clinical knowledge about adult ARPKD patients is scarce.
7 e the broad clinical spectrum of young adult ARPKD patients.
8 suggest that mutations in Cys1/CYS1 cause an ARPKD phenotype in mouse and human, respectively, and th
9 y, we report the first human patient with an ARPKD phenotype due to homozygosity for a deleterious sp
10 chanism underlying cystogenesis in ADPKD and ARPKD and provide insight into the molecular relationshi
11 fication of patients with CYS1 mutations and ARPKD prompted the investigations described herein.
12 overexpression in the livers of PCK rats and ARPKD or autosomal-dominant polycystic kidney disease pa
13 cystin-1 and polycystin-2, respectively) and ARPKD caused by PKHD1 (encoding fibrocystin/polyductin [
14  despite the presence of apical Na/K-ATPase, ARPKD cyst-lining cells absorb Na by a pathway that is m
15 e PKD and early lethality resembling classic ARPKD.
16 utosomal dominant polycystic kidney disease (ARPKD and ADPKD, respectively) and congenital hepatic fi
17 tosomal recessive polycystic kidney disease (ARPKD) (mean age, 10 years 3; two boys) between August 2
18 tosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease
19 tosomal recessive polycystic kidney disease (ARPKD) and long-term clinical outcome and to identify ri
20 tosomal recessive polycystic kidney disease (ARPKD) as a cystic kidney disease in which lesions are l
21 tosomal recessive polycystic kidney disease (ARPKD) gene, Pkhd1.
22 tosomal recessive polycystic kidney disease (ARPKD) gene, Tg737.
23 tosomal recessive polycystic kidney disease (ARPKD) had significantly lower RA/RAR activity.
24 tosomal recessive polycystic kidney disease (ARPKD) is a common hereditary renal cystic disease in in
25 tosomal recessive polycystic kidney disease (ARPKD) is a rare but devastating inherited disease in hu
26 tosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is cl
27 tosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease tha
28 tosomal recessive polycystic kidney disease (ARPKD) is a severe hepatorenal fibrocystic disorder.
29 tosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with p
30 tosomal recessive polycystic kidney disease (ARPKD) is a significant hereditary renal disease occurri
31 tosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring
32 tosomal recessive polycystic kidney disease (ARPKD) is an increased activity of the epidermal growth
33 tosomal recessive polycystic kidney disease (ARPKD) is an infantile form of PKD characterized by fusi
34 tosomal recessive polycystic kidney disease (ARPKD) is an inherited cystic disorder that produces ren
35 tosomal-recessive polycystic kidney disease (ARPKD) is caused by mutation to a large gene, PKHD1, enc
36 tosomal recessive polycystic kidney disease (ARPKD) is caused primarily by mutations in PKHD1, encodi
37 tosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes
38 tosomal recessive polycystic kidney disease (ARPKD) is characterized by biliary and renal lesions tha
39 tosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts
40 tosomal recessive polycystic kidney disease (ARPKD) is poorly understood, but impaired mechanosensiti
41 tosomal recessive polycystic kidney disease (ARPKD) was examined in nine ARPKD kidney specimens rangi
42 tosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (
43 tosomal-recessive polycystic kidney disease (ARPKD), decreased intracellular calcium [Ca(2+)](i) in c
44 tosomal recessive polycystic kidney disease (ARPKD), develop cholangiocyte-derived liver cysts associ
45 tosomal recessive polycystic kidney disease (ARPKD), displayed global changes in miRNA expression com
46 tosomal recessive polycystic kidney disease (ARPKD), one of the PCLDs.
47 tosomal recessive polycystic kidney disease (ARPKD), the cystic phenotype of which can be effectively
48 tosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is char
49 tosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is char
50 tosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneo
51 tosomal recessive polycystic kidney disease (ARPKD), yet its precise role in cystogenesis remains unc
52 tosomal recessive polycystic kidney disease (ARPKD).
53 tosomal recessive polycystic kidney disease (ARPKD).
54 tosomal Recessive Polycystic Kidney Disease (ARPKD).
55 tosomal recessive polycystic kidney disease (ARPKD).
56 tosomal recessive polycystic kidney disease (ARPKD).
57 tosomal recessive polycystic kidney disease (ARPKD).
58 tosomal recessive polycystic kidney disease (ARPKD).
59 tosomal recessive polycystic kidney disease (ARPKD).
60 tosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a hereditary and severe form of po
61 tosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [
62 duct cysts in tissue sections of human fetal ARPKD nephrectomy specimens and conditionally immortaliz
63 lies: The polycystins (ADPKD); fibrocystins (ARPKD); and meckelin.
64  possibly acquired) forms of liver fibrosis, ARPKD organoids could also be used to test the anti-fibr
65 ke it a strong positional candidate gene for ARPKD.
66 hese mAbs recognize fibrocystin, tissue from ARPKD patients was analyzed and no fibrocystin products
67                                     However, ARPKD cells absorbed Na at a rate approximately 50% grea
68 istochemically by lectin binding in 11 human ARPKD specimens obtained at different fetal and postnata
69 some amplification in the kidneys from human ARPKD patients.
70 e the description of cystic lesions in human ARPKD has been largely based on postnatal specimens, PT
71 enal pathology similar to that seen in human ARPKD.
72 nal pathology similar to that found in human ARPKD.
73                    c-ErbB2 staining of human ARPKD samples showed increased expression with increasin
74                   It is concluded that human ARPKD, like murine ARPKD, has a transient phase of PT cy
75  of which is genetically homologous to human ARPKD, the level of PKHD1 was significantly reduced but
76                                           In ARPKD, the combination of mutations is critical to the p
77                Furthermore, Na absorption in ARPKD cells was partially inhibited by 100 micro M apica
78 is channel may contribute to cystogenesis in ARPKD.
79 ersely correlates with renal cystogenesis in ARPKD.
80 PC dysfunction contribute to cystogenesis in ARPKD.
81 ion and indicates that the primary defect in ARPKD may be linked to ciliary dysfunction.
82 t with the notion that the primary defect in ARPKD resulting in cystogenesis may be linked to ciliary
83 nable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clini
84 cal trials on treatment of kidney disease in ARPKD.
85 ubular segment involved in cyst formation in ARPKD.
86 lying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the
87 stablish DZIP1L as a second gene involved in ARPKD pathogenesis.
88 roteins involved in vectorial Na movement in ARPKD epithelium.
89 e have identified PKHD1, the gene mutated in ARPKD.
90      The nature of the germline mutations in ARPKD plays a significant role in determining clinical o
91 ion of very early bilateral nephrectomies in ARPKD, especially in patients with residual kidney funct
92 parallels the tissue involvement observed in ARPKD.
93                          Screening PKHDL1 in ARPKD patients with no PKHD1 mutations revealed several
94 4 activity may have therapeutic potential in ARPKD.
95 ys are involved in Src-mediated signaling in ARPKD and that this occurs without reducing elevated cAM
96 f the EGFR may potentially be therapeutic in ARPKD.
97 et little is known about solute transport in ARPKD.
98 od that were identified in the international ARPKD cohort study ARegPKD.
99 lative risk score model in the international ARPKD registry for children older than 2 months of age w
100 ear mutations, making it unlikely that it is ARPKD-associated.
101                    The predicted full-length ARPKD protein, fibrocystin, is membrane bound with 4074
102                                    The major ARPKD-related renal and biliary phenotypes are modulated
103 oduction in hepatic organoids, which mirrors ARPKD liver tissue pathology.
104 mal development but is upregulated in murine ARPKD.
105 t is concluded that human ARPKD, like murine ARPKD, has a transient phase of PT cyst formation during
106 c feature of fetal human, as well as murine, ARPKD.
107  kidney disease (ARPKD) was examined in nine ARPKD kidney specimens ranging from gestational age 17 w
108                    Northern blot analyses of ARPKD whole kidney and Western immunoblot of ARPKD cells
109                            The main cause of ARPKD are variants in the PKHD1 gene encoding the large
110  in vitro may explain the characteristics of ARPKD phenotypes in vivo.
111  are involved in the hepatic cystogenesis of ARPKD.
112  658 patients with the clinical diagnosis of ARPKD and identified risk factors associated with rapid
113 epatic organoids develop the key features of ARPKD liver pathology (abnormal bile ducts and fibrosis)
114 1), are responsible for all typical forms of ARPKD.
115 ARPKD whole kidney and Western immunoblot of ARPKD cells showed approximately twofold greater express
116 antly attenuated the renal manifestations of ARPKD in a time-dependent manner.
117 c complementation of the BPK murine model of ARPKD with the CFTR knockout mouse.
118 e model and the orthologous PCK rat model of ARPKD, greater Src activity was found to correlate with
119 hology in the BALB/c-cpk/cpk murine model of ARPKD.
120 osine kinase activity into a murine model of ARPKD.
121  nondilated split-open CDs in a rat model of ARPKD.
122  fibrosis as well as in the PKC rat model of ARPKD.
123 stubular fluid secretion in animal models of ARPKD compared with ADPKD.
124                             Murine models of ARPKD consistently demonstrate an early phase of proxima
125  (22)Na transport performed on monolayers of ARPKD and age-matched collecting tubule (HFCT) cells gro
126               Moreover, the transcriptome of ARPKD organoid myofibroblasts resemble those present in
127                  Treatment of ADPKD cells or ARPKD cells with either Bay K8644, a Ca2+ channel activa
128 osomal-dominant polycystic kidney disease or ARPKD.
129 genotype-phenotype correlations in pediatric ARPKD patients and can lay the foundation for more preci
130 and cystin protein loss, closely phenocopies ARPKD.
131 wo childhood forms, autosomal recessive PKD (ARPKD) and nephronophthisis (NPH), are characterized by
132                  In autosomal recessive PKD (ARPKD), liver lesions are the major cause of morbidity a
133 y disease (PKD) and autosomal recessive PKD (ARPKD), the precise functions of their cystoprotein prod
134 ly similar to human autosomal recessive PKD (ARPKD), whereas genetic background modulates the penetra
135 ely resembles human autosomal recessive PKD (ARPKD), with the exception that B6-cpk/cpk homozygotes d
136 ductin (FPC), cause autosomal recessive PKD (ARPKD).
137 e mainly infantile, autosomal recessive PKD (ARPKD); and the lethal, syndromic, Meckel syndrome that
138 oduct of PKHD1, the autosomal-recessive PKD [ARPKD] gene) in cholangiocyte cilia; (2) biliary cyst fo
139 CK rats (a model of autosomal recessive PKD [ARPKD]), healthy human beings, and patients with autosom
140 c disease genes, HNF1beta (MODY5) and PKHD1 (ARPKD).
141 erited as a dominant (ADPKD) or a recessive (ARPKD) trait, due to mutations into multiple genes, the
142 om autosomal dominant (ADPKD) and recessive (ARPKD) PKD kidneys were used to determine whether contro
143    Autosomal dominant (ADPKD) and recessive (ARPKD) polycystic kidney disease are characterized by th
144 al dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney disease are caused by mutations
145 al dominant (ADPKD) and autosomal recessive (ARPKD)--are highly variable in penetrance.
146 nowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establis
147                                          The ARPKD gene, PKHD1, is large (approximately 470 kb; 67 ex
148                                          The ARPKD mutation increases collagen abundance and thick co
149 s relationship between the rat locus and the ARPKD region in humans; a candidate gene was identified.
150 ns, with no interaction detected between the ARPKD FPC protein and polycystins.
151 normal and polycystic kidney (PCK) rats, the ARPKD model of autosomal recessive polycystic kidney dis
152  produce kidney cysts by down-regulating the ARPKD gene, Pkhd1.
153 iptomic and other analyses indicate that the ARPKD mutation generates cholangiocytes with increased T
154                         The function of this ARPKD gene may be evolutionarily conserved: mutations re
155 ines from fibroblasts of three ADPKD and two ARPKD patients.
156 ed by the anti-fibrotic effect observed when ARPKD organoids were treated with PDGFRB inhibitors.
157  and hepatic portal fibrosis associated with ARPKD have not been well studied even though such lesion
158                                Patients with ARPKD and congenital hepatic fibrosis were evaluated at
159 a deep clinical dataset of 304 patients with ARPKD from two independent cohorts and identified novel
160             Seventy percent of patients with ARPKD have biliary abnormalities.
161 kidney MRF scans for the three patients with ARPKD on successive days also demonstrated good reproduc
162                             In patients with ARPKD or other ciliopathies, abdominal US is needed for
163 congenital hepatic fibrosis in patients with ARPKD, confirmed by detection of mutations in PKHD1.
164  similar to that seen in human patients with ARPKD.
165 interacting protein 1-like, in patients with ARPKD.
166 onset but is underdiagnosed in patients with ARPKD.
167 e human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8

 
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